Helle, Anne, Hirsjärvi, Samuli, Peltonen, Leena, Hirvonen, Jouni, Wiedmer, Susanne K., Hyötyläinen, Tuulia
Journal of Pharmaceutical and Biomedical Analysis Vol.51 Nr.1, 125 - 130
Common variants conferring risk of schizophrenia (2009)
Stefansson, Hreinn, Ophoff, Roel A, Steinberg, Stacy, Andreassen, Ole A, Cichon, Sven, Rujescu, Dan, ...
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Common variants conferring risk of schizophrenia. (2009)
Stefansson, Hreinn, Ophoff, Roel A, Steinberg, Stacy, Andreassen, Ole A, Cichon, Sven, Rujescu, Dan, ...
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Silander, Kaisa, Tang, Hua, Myles, Sean, Jakkula, Eveliina, Timpson, Nicholas J, Cavalli-Sforza, Luigi, ...
Abstract A 100 kb region on 9p21.3 harbors two major disease susceptibility loci: one for type 2 diabetes (T2D) and one for coronary heart disease (CHD). The single nucleotide polymorphisms (SNPs)...
Disruption of the neurexin 1 gene is associated with schizophrenia (2009)
Rujescu, Dan, Ingason, Andres, Cichon, Sven, Pietiläinen, Olli P H, Barnes, Michael R, Toulopoulou, Timothea, ...
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Sabatti, Chiara, Service, Susan K., Hartikainen, Anna-Liisa, Pouta, Anneli, Ripatti, Samuli, Brodsky, Jae, ...
Genome-wide association studies (GWAS) of longitudinal birth cohorts enable joint investigation of environmental and genetic influences on complex traits. We report GWAS results for nine quantitative...
Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS (2009)
Kallio, Suvi P., Jakkula, Eveliina, Purcell, Shaun, Suvela, Minna, Koivisto, Keijo, Tienari, Pentti J., ...
Large case–control genome-wide association studies primarily expose common variants contributing to disease pathogenesis with modest effects. Thus, alternative strategies are needed to tackle rare,...
Disruption of the neurexin 1 gene is associated with schizophrenia (2009)
Rujescu, Dan, Ingason, Andres, Cichon, Sven, Pietiläinen, Olli P.H., Barnes, Michael R., Toulopoulou, Timothea, ...
Deletions within the neurexin 1 gene (NRXN1; 2p16.3) are associated with autism and have also been reported in two families with schizophrenia. We examined NRXN1, and the closely related NRXN2 and...
Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland (2009)
Kilpinen, Helena, Ylisaukko-oja, Tero, Rehnström, Karola, Gaál, Emilia, Turunen, Joni A., Kempas, Elli, ...
Population isolates, such as Finland, have proved beneficial in mapping rare causative genetic variants due to a limited number of founders resulting in reduced genetic heterogeneity and extensive...
Geographical structure and differential natural selection among North European populations (2009)
McEvoy, Brian P., Montgomery, Grant W., McRae, Allan F., Ripatti, Samuli, Perola, Markus, Spector, Tim D., ...
Population structure can provide novel insight into the human past, and recognizing and correcting for such stratification is a practical concern in gene mapping by many association methodologies. We...
Keskitalo, Kaisu, Broms, Ulla, Heliövaara, Markku, Ripatti, Samuli, Surakka, Ida, Perola, Markus, ...
A cluster of three nicotinic acetylcholine receptor genes on chromosome 15 (CHRNA5/CHRNA3/CHRNB4) has been shown to be associated with nicotine dependence and smoking quantity. The aim of this study...
The role of the CD58 locus in multiple sclerosis (2009)
Baecher-Allan, Clare, Maier, Lisa M, Arthur, Ariel T, Ottoboni, Linda, Barcellos, Lisa, ...
Multiple sclerosis (MS) is an inflammatory disease of the central nervous system associated with demyelination and axonal loss. A whole genome association scan suggested that allelic variants in the...
GENETICS OF COMPLEX DISEASES AND ISOLATED POPULATIONS (2008)
Tecan Italia Srl, John Blangero, Clara Camaschella, Francoise Clerget-darpoux, Paolo Gasparini, Paola Melis, ...
3rd INTERNATIONAL MEETING on
Large recurrent microdeletions associated with schizophrenia (2008)
Stefansson, Hreinn, Rujescu, Dan, Cichon, Sven, Pietiläinen, Olli P H, Ingason, Andres, Steinberg, Stacy, ...
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Isolated populations and complex disease gene identification (2008)
Kristiansson, Kati, Naukkarinen, Jussi, Peltonen, Leena
Abstract The utility of genetically isolated populations (population isolates) in the mapping and identification of genes is not only limited to the study of rare diseases; isolated populations also...
PRKCA and multiple sclerosis: association in two independent populations (2008)
Choi, Eva, Asselta, Rosanna, Lincoln, Matthew R., Hudson, Thomas J., Chen, Daniel, Sadovnick, A. Dessa, ...
Von Schantz, Carina, Saharinen, Juha, Kopra, Outi, Cooper, Jonathan D, Gentile, Massimiliano, Hovatta, Iiris, ...
Abstract Background The neuronal ceroid lipofuscinoses (NCL) are a group of children's inherited neurodegenerative disorders, characterized by blindness, early dementia and pronounced cortical...
Kirsi H. Pietiläinen, Jussi Naukkarinen, Aila Rissanen, Juha Saharinen, Pekka Ellonen, Heli Keränen, ...
BackgroundThe acquired component of complex traits is difficult to dissect in humans. Obesity represents such a trait, in which the metabolic and molecular consequences emerge from complex...
Dore, Maria Pina, Pedroni, Antonietta, Peltonen, Leena, Enattah, Nabil Satri, Tadeu, Vincenza, Delitala, Giuseppe, ...
Lactose malabsorption is a common problem in humans. Although not in all subjects lactose intake might cause diarrhea, abdominal pain, and flatulence limiting consumption of dairy products. The...
Lehto, Paula, Aaltonen, Jaakko, Niemelä, Pentti, Rantanen, Jukka, Hirvonen, Jouni, Tanninen, Veli Pekka, ...
International Journal of Pharmaceutics Vol.363 Nr.1 - 2, 66 - 72
Nyholt, Dale R., LaForge, K. Steven, Kallela, Mikko, Alakurtti, Kirsi, Anttila, Verneri, Färkkilä, Markus, ...
The clinical overlap between monogenic Familial Hemiplegic Migraine (FHM) and common migraine subtypes, and the fact that all three FHM genes are involved in the transport of ions, suggest that ion...
Yuille, Martin, Van Ommen, Gert-Jan, Bréchot, Christian, Cambon-Thomsen, Anne, Dagher, Georges, Landegren, Ulf, ...
Biobanks are well-organized resources comprising biological samples and associated information that are accessible to scientific investigation. Across Europe, millions of samples with related data...
Finding disease candidate genes by liquid association (2007)
Li, Ker-Chau, Palotie, Aarno, Yuan, Shinsheng, Bronnikov, Denis, Chen, Daniel, Wei, Xuelian, ...
Abstract A novel approach to finding candidate genes by using gene expression data through liquid association is developed and used to identify multiple sclerosis susceptibility candidate genes.
Palo, Outi M., Antila, Mervi, Silander, Kaisa, Hennah, William, Kilpinen, Helena, Soronen, Pia, ...
Bipolar disorder (BPD) and schizophrenia (SCZ) have at least a partially convergent aetiology and thus may share genetic susceptibility loci. Multiple lines of evidence emphasize the role of...
Combined Effects of Thrombosis Pathway Gene Variants Predict Cardiovascular Events (2007)
Kirsi Auro, Mervi Alanne, Kati Kristiansson, Kaisa Silander, Kari Kuulasmaa, Veikko Salomaa, ...
The genetic background of complex diseases is proposed to consist of several low-penetrance risk loci. Addressing this complexity likely requires both large sample size and simultaneous analysis of...
Combined Effects of Thrombosis Pathway Gene Variants Predict Cardiovascular Events (2007)
Kirsi Auro, Mervi Alanne, Kati Kristiansson, Kaisa Silander, Kari Kuulasmaa, Veikko Salomaa, ...
The genetic background of complex diseases is proposed to consist of several low-penetrance risk loci. Addressing this complexity likely requires both large sample size and simultaneous analysis of...
Markus Perola, Sampo Sammalisto, Tero Hiekkalinna, Nick G. Martin, Peter M. Visscher, Grant W. Montgomery, ...
Twin cohorts provide a unique advantage for investigations of the role of genetics and environment in the etiology of variation in common complex traits by reducing the variance due to environment,...
Markus Perola, Sampo Sammalisto, Tero Hiekkalinna, Nick Martin, Peter M. Visscher, Grant W. Montgomery, ...
Twin cohorts provide a unique advantage for investigations of the role of genetics and environment in the etiology of variation in common complex traits by reducing the variance due to environmental,...
Hennah, William, Tomppo, Liisa, Hiekkalinna, Tero, Palo, Outi M., Kilpinen, Helena, Ekelund, Jesper, ...
We have previously reported a robust association between an allelic haplotype of ‘Disrupted in Schizophrenia 1’ (DISC1) and schizophrenia in a nationwide collection of Finnish schizophrenia...
Genetics of healthy aging in europe (2007)
Franceschi, Claudio, Bezrukov, Vladyslav, Blanché, Hélène, Bolund, Lars, Christensen, Kaare, De Benedictis, Giovanna, ...
The aim of the 5-year European Union (EU)-Integrated Project GEnetics of Healthy Aging (GEHA), constituted by 25 partners (24 from Europe plus the Beijing Genomics Institute from China), is to...
Service, Susan, DeYoung, Joseph, Karayiorgou, Maria, Roos, J. Louw, Pretorious, Herman, Bedoya, Gabriel, ...
The genome-wide distribution of linkage disequilibrium (LD) determines the strategy for selecting markers for association studies, but it varies between populations. We assayed LD in large samples...
Risk Alleles of USF1 Gene Predict Cardiovascular Disease of Women in Two Prospective Studies (2006)
Kati Komulainen, Mervi Alanne, Kirsi Auro, Riika Kilpikari, Päivi Pajukanta, Janna Saarela, ...
Upstream transcription factor 1 (USF1) is a ubiquitously expressed transcription factor controlling several critical genes in lipid and glucose metabolism. Of some 40 genes regulated by USF1, several...
Service, Susan, DeYoung, Joseph, Karayiorgou, Maria, Roos, J. Louw, Pretorious, Herman, Bedoya, Gabriel, ...
The genome-wide distribution of linkage disequilibrium (LD) determines the strategy for selecting markers for association studies, but it varies between populations. We assayed LD in large samples...
Risk Alleles of USF1 -Gene Predict Cardiovascular Disease of Women in Two Prospective Studies (2006)
Kati Komulainen, Mervi Alanne, Kirsi Auro, Riika Kilpikari, Päivi Pajukanta, Janna Saarela, ...
Upstream transcription factor 1 (USF1) is a ubiquitously expressed transcription factor controlling several critical genes in lipid and glucose metabolism. Out of some 40 genes regulated by USF1,...
PRKCA and Multiple Sclerosis: Association in Two Independent Populations (2006)
Janna Saarela, Suvi P. Kallio, Daniel Chen, Alexandre Montpetit, Anne Jokiaho, Eva Choi, ...
Multiple sclerosis (MS) is a chronic disease of the central nervous system responsible for a large portion of neurological disabilities in young adults. Similar to what occurs in numerous complex...
Lessons from studying monogenic disease for common disease (2006)
Peltonen, Leena, Perola, Markus, Naukkarinen, Jussi, Palotie, Aarno
Beyond Schizophrenia: The Role of DISC1 in Major Mental Illness (2006)
Hennah, William, Thomson, Pippa, Peltonen, Leena, Porteous, David
Schizophrenia and related disorders have a major genetic component, but despite much effort and many claims, few genes have been consistently replicated and fewer have biological support. One recent...
Cross-species analyses implicate Lipin 1 involvement in human glucose metabolism (2006)
Suviolahti, Elina, Reue, Karen, Cantor, Rita M., Phan, Jack, Gentile, Massimiliano, Naukkarinen, Jussi, ...
Recent studies in the mouse have demonstrated that variations in lipin expression levels in adipose tissue have marked effects on adipose tissue mass and insulin sensitivity. In the mouse, lipin...
Hennah, William, Tomppo, Liisa, Hiekkalinna, Tero, Palo, Outi M, Kilpinen, Helena, Ekelund, Jesper, ...
We have previously reported a robust association between an allelic haplotype of DISC1 and schizophrenia in a nationwide collection of Finnish schizophrenia families. This specific DISC1 allele was...
Genes and Schizophrenia: Beyond Schizophrenia: The Role of DISC1 in Major Mental Illness (2006)
Hennah, William, Thomson, Pippa, Peltonen, Leena, Porteous, David
Schizophrenia and related disorders have a major genetic component, but despite much effort and many claims, few genes have been consistently replicated and fewer have biological support. One recent...
USF1 and dyslipidemias: converging evidence for a functional intronic variant (2005)
Naukkarinen, Jussi, Gentile, Massimiliano, Soro-Paavonen, Aino, Saarela, Janna, Koistinen, Heikki A., Pajukanta, Päivi, ...
Upstream transcription factor 1 (USF1), the first gene associated with familial combined hyperlipidemia (FCHL), regulates numerous genes of glucose and lipid metabolism. Phenotypic overlap between...
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1 (2005)
Mee, Lisa, Honkala, Heli, Kopra, Outi, Vesa, Jouni, Finnilä, Saara, Visapää, Ilona, ...
Hydrolethalus syndrome (HLS) is an autosomal recessive lethal malformation syndrome characterized by multiple developmental defects of fetus. We have earlier mapped and restricted the HLS region to a...
Nikali, Kaisu, Suomalainen, Anu, Saharinen, Juha, Kuokkanen, Mikko, Spelbrink, Johannes N., Lönnqvist, Tuula, ...
Infantile onset spinocerebellar ataxia (IOSCA) (MIM 271245) is a severe autosomal recessively inherited neurodegenerative disorder characterized by progressive atrophy of the cerebellum, brain stem...
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1 (2005)
Mee, Lisa, Honkala, Heli, Kopra, Outi, Vesa, Jouni, Finnilä, Saara, Visapää, Ilona, ...
Hydrolethalus syndrome (HLS) is an autosomal recessive lethal malformation syndrome characterized by multiple developmental defects of fetus. We have earlier mapped and restricted the HLS region to a...
USF1 and Dyslipidemias: converging evidence for a functional intronic variant (2005)
Naukkarinen, Jussi, Gentile, Massimiliano, Soro-Paavonen, Aino, Saarela, Janna, Koistinen, Heikki A, Pajukanta, Päivi, ...
Upstream transcription factor 1 (USF1), the first gene associated with familial combined hyperlipidemia (FCHL), regulates numerous genes of glucose and lipid metabolism. Phenotypic overlap between...
Nikali, Kaisu, Suomalainen, Anu, Saharinen, Juha, Kuokkanen, Mikko, Spelbrink, Johannes N., Lönnqvist, Tuula, ...
Infantile onset spinocerebellar ataxia (IOSCA; MIM271245) is a severe autosomal recessively inherited neurodegenerative disorder characterized by progressive atrophy of the cerebellum, brain stem and...
Cross-Species Analyses Implicate Lipin 1 Involvement in Human Glucose Metabolism (2005)
Suviolahti, Elina, Reue, Karen, Cantor, Rita M., Phan, Jack, Gentile, Massimilliano, Naukkarinen, Jussi, ...
Recent studies in the mouse have demonstrated that variations in lipin expression levels in adipose tissue have marked effects on adipose tissue mass and insulin sensitivity. In the mouse, lipin...
Segmental duplications flank the multiple sclerosis locus on chromosome 17q. (2004)
Chen, Daniel C., Saarela, Janna, Clark, Royden A., Miettinen, Timo, Chi, Anthony, Eichler, Evan E., ...
Large chromosomal rearrangements, duplications, and inversions are relatively common in mammalian genomes. Here we report interesting features of DNA strands flanking a Multiple Sclerosis (MS)...
Paunio, Tiina, Tuulio-Henriksson, Annamari, Hiekkalinna, Tero, Perola, Markus, Varilo, Teppo, Partonen, Timo, ...
Research to identify predisposing genes for complex diseases relying solely on clinical diagnosis is probably not ideal. Here, we analysed genomewide data for 168 schizophrenia families using...
Kopra, Outi, Vesa, Jouni, Von Schantz, Carina, Manninen, Tuula, Minye, Helena, Fabritius, Anna-Liisa, ...
Neuronal ceroid lipofuscinoses (NCL) comprise the most common group of childhood encephalopathies caused by mutations in eight genetic loci, CLN1-CLN8. Here we have developed a novel mouse model for...
Segmental Duplications Flank the Multiple Sclerosis Locus on Chromosome 17q (2004)
Chen, Daniel C., Saarela, Janna, Clark, Royden A., Miettinen, Timo, Chi, Anthony, Eichler, Evan E., ...
Large chromosomal rearrangements, duplications, and inversions are relatively common in mammalian genomes. Here we report interesting features of DNA strands flanking a Multiple Sclerosis (MS)...
Paunio, Tiina, Tuulio-Henriksson, Annamari, Hiekkalinna, Tero, Perola, Markus, Varilo, Teppo, Partonen, Timo, ...
Research to identify predisposing genes for complex diseases relying solely on clinical diagnosis is probably not ideal. Here, we analyzed genome-wide data for 168 schizophrenia families using...
Cohort profile: MORGAM (an international pooling of cardiovascular cohorts) (2004)
Evans, Alun, Salomaa, Veikko, Kulathinal, Sangita, Asplund, Kjell, Cambien, François, Ferrario, Marco, ...
Segmental Duplications Flank the Multiple Sclerosis Locus on Chromosome 17q (2004)
Chen, Daniel C., Saarela, Janna, Clark, Royden A., Miettinen, Timo, Chi, Anthony, Eichler, Evan E., ...
Large chromosomal rearrangements, duplications, and inversions are relatively common in mammalian genomes. Here we report interesting features of DNA strands flanking a Multiple Sclerosis (MS)...
Kopra, Outi, Vesa, Jouni, Von Schantz, Carina, Manninen, Tuula, Minye, Helena, Fabritius, Anna-Liisa, ...
Neuronal ceroid lipofuscinoses (NCL) comprise the most common group of childhood encephalopathies caused by mutations in eight genetic loci, CLN1–CLN8. Here, we have developed a novel mouse model...
Paunio, Tiina, Tuulio-Henriksson, Annamari, Hiekkalinna, Tero, Perola, Markus, Varilo, Teppo, Partonen, Timo, ...
Research to identify predisposing genes for complex diseases relying solely on clinical diagnosis is probably not ideal. Here, we analysed genomewide data for 168 schizophrenia families using...
Kopra, Outi, Vesa, Jouni, Von Schantz, Carina, Manninen, Tuula, Minye, Helena, Fabritius, Anna-Liisa, ...
Neuronal ceroid lipofuscinoses (NCL) comprise the most common group of childhood encephalopathies caused by mutations in eight genetic loci, CLN1-CLN8. Here we have developed a novel mouse model for...
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia (2003)
Lewis, Cathryn M, Levinson, Douglas F, Wise, Lesley H, DeLisi, Lynn E, Straub, Richard E, Hovatta, Iiris, ...
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Evidence of susceptibility loci on 4q32 and 16p12 for bipolar disorder (2003)
Ekholm, Jenny M., Kieseppä, Tuula, Hiekkalinna, Tero, Partonen, Timo, Paunio, Tiina, Perola, Markus, ...
We performed a genome-wide scan for susceptibility loci in bipolar disorder in a study sample colleted from the isolated Finnish population, consisting of 41 families with at least two affected...
MOLECULAR DEFECT OF THE RAPADILINO SYNDROME EXPANDS THE PHENOTYPE SPECTRUM OF RECQL DISEASES (2003)
Siitonen, H. Annika, Kopra, Outi, Kääriäinen, Helena, Haravuori, Henna, Winter, Robin M., Säämänen, Anna-Marja, ...
The RECQL4 helicase gene is a member of the RECQL gene family, mutated in some Rothmund-Thomson syndrome (RTS) patients. Other members of this gene family are BLM mutated in Bloom syndrome, WRN...
Hennah, William, Varilo, Teppo, Kestilä, Marjo, Paunio, Tiina, Arajärvi, Ritva, Haukka, Jari, ...
We have previously reported a linkage peak on 1q42 in a Finnish schizophrenia sample. In this study we genotyped 28 single nucleotide polymorphisms (SNPs) from 1q42 covering the three candidate genes...
Hennah, William, Varilo, Teppo, Kestilä, Marjo, Paunio, Tiina, Arajärvi, Ritva, Haukka, Jari, ...
We have previously reported a linkage peak on 1q42 in a Finnish schizophrenia sample. In this study we genotyped 28 single nucleotide polymorphisms (SNPs) from 1q42 covering the three candidate genes...
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases (2003)
Siitonen, H. Annika, Kopra, Outi, Kääriäinen, Helena, Haravuori, Henna, Winter, Robin M., Säämänen, Anna-Marja, ...
The RECQL4 helicase gene is a member of the RECQL gene family, mutated in some Rothmund–Thomson syndrome (RTS) patients. Other members of this gene family are BLM mutated in Bloom syndrome, WRN...
MOLECULAR DEFECT OF THE RAPADILINO SYNDROME EXPANDS THE PHENOTYPE SPECTRUM OF RECQL DISEASES (2003)
Siitonen, H. Annika, Kopra, Outi, Kääriäinen, Helena, Haravuori, Henna, Winter, Robin M., Säämänen, Anna-Marja, ...
The RECQL4 helicase gene is a member of the RECQL gene family, mutated in some Rothmund-Thomson syndrome (RTS) patients. Other members of this gene family are BLM mutated in Bloom syndrome, WRN...
Hennah, William, Varilo, Teppo, Kestilä, Marjo, Paunio, Tiina, Arajärvi, Ritva, Haukka, Jari, ...
We have previously reported a linkage peak on 1q42 in a Finnish schizophrenia sample. In this study we genotyped 28 single nucleotide polymorphisms (SNPs) from 1q42 covering the three candidate genes...
Ramsey, Chris, Bukrinsky, Alex, Peltonen, Leena
Mutations in the human autoimmune regulator (AIRE ) gene cause a multi-systemic autoimmune syndrome that is known as autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy...
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein (2002)
Isosomppi, Juha, Vesa, Jouni, Jalanko, Anu, Peltonen, Leena
The Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCL) belongs to the neuronal ceroid lipofuscinosis group of common recessively inherited neurodegenerative disorders. The...
Ramsey, Chris, Winqvist, Ola, Puhakka, Lea, Halonen, Maria, Moro, Aune, Kämpe, Olle, ...
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a monogenic autosomal recessive disease caused by mutations in the AIRE gene. Here we have produced knock-out mice for the...
Fine mapping of a multiple sclerosis locus to 2.5 Mb on chromosome 17q22-q24 (2002)
Saarela, Janna, Schoenberg Fejzo, Marlena, Chen, Daniel, Finnilä, Saara, Parkkonen, Maikki, Kuokkanen, Satu, ...
Genome-wide linkage analyses performed in a Finnish study sample have identified four potential predisposing loci for multiple sclerosis (MS). Here we made an effort to restrict the wide linkage...
Diss. -- Helsingin yliopisto.
Chromosome 1 loci in Finnish schizophrenia families (2001)
Ekelund, Jesper, Hovatta, Iiris, Parker, Alex, Paunio, Tiina, Varilo, Teppo, Martin, Rory, ...
We have earlier reported evidence for linkage to two regions on chromosome 1q32–q42 in schizophrenia families collected for two separate studies in Finland. Here we report the results of a fine...
Saarela, Jani, Laine, Minna, Oinonen, Carita, Schantz, Carina Von, Jalanko, Anu, Rouvinen, Juha, ...
A deficiency of functional aspartylglucosaminidase (AGA) causes a lysosomal storage disease, aspartylglucosaminuria (AGU). The recessively inherited disease is enriched in the Finnish population,...
Pastinen, Tomi, Raitio, Mirja, Lindroos, Katarina, Tainola, Päivi, Peltonen, Leena, Syvänen, Ann-Christine
Ekelund, Jesper, Lichtermann, Dirk, Hovatta, Iiris, Ellonen, Pekka, Suvisaari, Jaana, Terwilliger, Joseph D., ...
We report the results of a four-stage genome-wide scan in a schizophrenia study sample consisting of 134 affected sib-pairs collected in Finland. In stage I we genotyped 370 markers from the Weber 6...
Molecular genetics of the Finnishdisease heritage (1999)
Peltonen, Leena, Jalanko, Anu, Varilo, Teppo
Finland, located at the edge of the inhabitable world,is one of the best-studied genetic isolates. The characteristicfeatures of population isolatesfounder effect, geneticdrift and isolationhave,...
Mapping ESTs by Fiber-FISH (1999)
Horelli-Kuitunen, Nina, Aaltonen, Johanna, Yaspo, Marie-Laure, Eeva, Mervi, Wessman, Maija, Peltonen, Leena, ...
Paavola, Paulina, Avela, Kristiina, Horelli-Kuitunen, Nina, Bärlund, Maarit, Kallioniemi, Anne, Idänheimo, Niina, ...
Mouse Palmitoyl Protein Thioesterase: Gene Structure and Expression of cDNA (1998)
Salonen, Tarja, Hellsten, Elina, Horelli-Kuitunen, Nina, Peltonen, Leena, Jalanko, Anu
Aaltonen, Johanna, Horelli-Kuitunen, Nina, Fan, Jian-Bing, Björses, Petra, Perheentupa, Jaakko, Myers, Richard, ...
Minisequencing: A Specific Tool for DNA Analysis and Diagnostics on Oligonucleotide Arrays (1997)
Pastinen, Tomi, Kurg, Ants, Metspalu, Andres, Peltonen, Leena, Syvänen, Ann-Christine
Fbn Gene, Gwenaëlle Collod-béroud, Christophe Béroud, Lesley Adès, Cheryl Black, Maureen Boxer, ...
Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were described at first in the heritable connective tissue disorder, Marfan...
Paunlo, Tllna, Kangas, Hannele, Kalkklnen, Nisse, Haltia, Matti, Palo, Jorma, Peltonen, Leena
Gelsolln-related amyloldosls, also called familial amyloldosls, Finnish type (FAF) Is an autosomal dominantly Inherited disorder characterized by progressive polyneuropathy and corneal lattice...
Peltola, Minna, Chiatayat, David, Peltonen, Leena, Jalanko, Anu
We have identified a novel aspartylglucosaminuria (AGU) mutation In the second exon of the aspartyl-glucosaminldase (AGA) gene resulting In a lysosomal storage disease In a Puerto Rican pedigree....
Suomalainen, Anu, Majander, Anna, Pihko, Helena, Peltonen, Leena, Syvänen, Ann-Christine
The MELAS syndrome is a mitochondrial encephalomyopathy associated with a point mutation at nucleotide 3243 of mitochondrial DNA (mtDNA). The same mutation has also been found in patients with...
An Alu variable polyA repeat polymorphism upstream of L-myc at 1p32 (1992)
Mäkelä, Tomi P., Hellsten, Elina, Vesa, Jouni, Alitalo, Kari, Peltonen, Leena
Vesa, Jouni, Chin, Mark H., Oelgeschläger, Kathrin, Isosomppi, Juha, DellAngelica, Esteban C., Jalanko, Anu, ...
Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative storage diseases characterized by mental retardation, visual failure, and brain atrophy as well as accumulation of storage material in...
The SLC6A14 gene shows evidence of association with obesity
Suviolahti, Elina, Oksanen, Laura J., Öhman, Miina, Cantor, Rita M., Ridderstråle, Martin, Tuomi, Tiinamaija, ...
In our previous genome-wide scan of Finnish nuclear families, obesity was linked to chromosome Xq24. Here we analyzed this 15-Mb region by genotyping 9 microsatellite markers and 36 single nucleotide...
Horelli-Kuitunen, Nina, Aaltonen, Johanna, Yaspo, Marie-Laure, Eeva, Mervi, Wessman, Maija, Peltonen, Leena, ...
A visual transcript map of six genes was constructed on the chromosome 21q22.3 by high resolution fluorescence in situ hybridization (FISH). Expressed sequence tags (ESTs) from six genes—PWP2,...
Paavola, Paulina, Avela, Kristiina, Horelli-Kuitunen, Nina, Bärlund, Maarit, Kallioniemi, Anne, Idänheimo, Niina, ...
Previously, we assigned the genes for two autosomal recessive disorders, Meckel syndrome (MKS; MIM 249000) and Mulibrey Nanism [MUL (muscle–liver–brain–eye Nanism); MIM 253250] that are...
Mouse Palmitoyl Protein Thioesterase: Gene Structure and Expression of cDNA
Salonen, Tarja, Hellsten, Elina, Horelli-Kuitunen, Nina, Peltonen, Leena, Jalanko, Anu
Palmitoyl protein thioesterase (PPT) is the defective enzyme in infantile neuronal ceroid lipofuscinosis (INCL), which is a recessively inherited, progressive neurodegenerative disorder. We present...
A System for Specific, High-throughput Genotyping by Allele-specific Primer Extension on Microarrays
Pastinen, Tomi, Raitio, Mirja, Lindroos, Katarina, Tainola, Päivi, Peltonen, Leena, Syvänen, Ann-Christine
This study describes a practical system that allows high-throughput genotyping of single nucleotide polymorphisms (SNPs) and detection of mutations by allele-specific extension on primer arrays. The...
Segmental Duplications Flank the Multiple Sclerosis Locus on Chromosome 17q
Chen, Daniel C., Saarela, Janna, Clark, Royden A., Miettinen, Timo, Chi, Anthony, Eichler, Evan E., ...
Large chromosomal rearrangements, duplications, and inversions are relatively common in mammalian genomes. Here we report interesting features of DNA strands flanking a Multiple Sclerosis (MS)...
Autoproteolytic activation of human aspartylglucosaminidase.
Saarela, Jani, Oinonen, Carita, Jalanko, Anu, Rouvinen, Juha, Peltonen, Leena
Aspartylglucosaminidase (AGA) belongs to the N-terminal nucleophile (Ntn) hydrolase superfamily characterized by an N-terminal nucleophile as the catalytic residue. Three-dimensional structures of...
Perola, Markus, Öhman, Miina, Hiekkalinna, Tero, Leppävuori, Jenni, Pajukanta, Päivi, Wessman, Maija, ...
In recent years, many genomewide screens have been performed, to identify novel loci predisposing to various complex diseases. Often, only a portion of the collected clinical data from the study...
Aula, Nina, Salomäki, Pirjo, Timonen, Ritva, Verheijen, Frans, Mancini, Grazia, Månsson, Jan-Eric, ...
Lysosomal free sialic acid–storage diseases include the allelic disorders Salla disease (SD) and infantile sialic acid–storage disease (ISSD). The defective gene, SLC17A5, coding for the...
Pajukanta, Päivi, Cargill, Michele, Viitanen, Laura, Nuotio, Ilpo, Kareinen, Anu, Perola, Markus, ...
Coronary heart disease (CHD) is a complex disorder constituting a major health problem in Western societies. To assess the genetic background of CHD, we performed a genomewide linkage scan in two...
Björses, Petra, Halonen, Maria, Palvimo, Jorma J., Kolmer, Meelis, Aaltonen, Johanna, Ellonen, Pekka, ...
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a monogenic autosomal disease with recessive inheritance. It is characterized by multiple autoimmune endocrinopathies,...
Virolainen, Elina, Wessman, Maija, Hovatta, Iiris, Niemi, Kirsti-Maria, Ignatius, Jaakko, Kere, Juha, ...
Autosomal recessive congenital ichthyosis (ARCI) is a rare, clinically and genetically heterogeneous genodermatosis. One gene (transglutaminase 1, on 14q11) and one additional locus (on 2q33-35, with...
Leppävuori, Jenni, Kujala, Urho, Kinnunen, Jaakko, Kaprio, Jaakko, Nissilä, Martti, Heliövaara, Markku, ...
The genetic contribution to common forms of osteoarthritis (OA) is well established but poorly understood. We performed a genome scan, using 302 markers for loci predisposing to distal...
Assignment of the Locus for Hydrolethalus Syndrome to a Highly Restricted Region on 11q23-25
Visapää, Ilona, Salonen, Riitta, Varilo, Teppo, Paavola, Paulina, Peltonen, Leena
Hydrolethalus syndrome is a recessively inherited lethal malformation syndrome characterized by hydrocephaly with absent midline structures of the brain, micrognathia, polydactyly, and several other...
Hovatta, Iiris, Varilo, Teppo, Suvisaari, Jaana, Terwilliger, Joseph D., Ollikainen, Vesa, Arajärvi, Ritva, ...
Schizophrenia is a severe mental disorder affecting ∼1% of the world's population. Here, we report the results from a three-stage genomewide screen performed in a study sample from an internal...
PRKCA and Multiple Sclerosis: Association in Two Independent Populations
Saarela, Janna, Kallio, Suvi P, Chen, Daniel, Montpetit, Alexandre, Jokiaho, Anne, Choi, Eva, ...
Multiple sclerosis (MS) is a chronic disease of the central nervous system responsible for a large portion of neurological disabilities in young adults. Similar to what occurs in numerous complex...
Risk Alleles of USF1 Gene Predict Cardiovascular Disease of Women in Two Prospective Studies
Komulainen, Kati, Alanne, Mervi, Auro, Kirsi, Kilpikari, Riika, Pajukanta, Päivi, Saarela, Janna, ...
Upstream transcription factor 1 (USF1) is a ubiquitously expressed transcription factor controlling several critical genes in lipid and glucose metabolism. Of some 40 genes regulated by USF1, several...
Mutations in the Translated Region of the Lactase Gene (LCT) Underlie Congenital Lactase Deficiency
Kuokkanen, Mikko, Kokkonen, Jorma, Enattah, Nabil Sabri, Ylisaukko-oja, Tero, Komu, Hanna, Varilo, Teppo, ...
Congenital lactase deficiency (CLD) is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. We initially assigned...
Williams, Ruth, Vesa, Jouni, Järvelä, Irma, McKay, Tristan, Mitchison, Hannah, Hellsten, Elina, ...
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types....
Kainulainen, Katariina, Steinmann, Beat, Collins, Francis, Dietz, Harry C., Francomano, Clair A., Child, Anne, ...
Marfan syndrome is a dominantly inherited connective tissue disorder with manifestations in the cardiovascular, ocular, and skeletal systems. The diagnosis is hampered by both high variability in the...
Vesa, Jouni, Chin, Mark H., Oelgeschläger, Kathrin, Isosomppi, Juha, DellAngelica, Esteban C., Jalanko, Anu, ...
Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative storage diseases characterized by mental retardation, visual failure, and brain atrophy as well as accumulation of storage material in...
The SLC6A14 gene shows evidence of association with obesity
Suviolahti, Elina, Oksanen, Laura J., Öhman, Miina, Cantor, Rita M., Ridderstråle, Martin, Tuomi, Tiinamaija, ...
In our previous genome-wide scan of Finnish nuclear families, obesity was linked to chromosome Xq24. Here we analyzed this 15-Mb region by genotyping 9 microsatellite markers and 36 single nucleotide...
Horelli-Kuitunen, Nina, Aaltonen, Johanna, Yaspo, Marie-Laure, Eeva, Mervi, Wessman, Maija, Peltonen, Leena, ...
A visual transcript map of six genes was constructed on the chromosome 21q22.3 by high resolution fluorescence in situ hybridization (FISH). Expressed sequence tags (ESTs) from six genes—PWP2,...
Paavola, Paulina, Avela, Kristiina, Horelli-Kuitunen, Nina, Bärlund, Maarit, Kallioniemi, Anne, Idänheimo, Niina, ...
Previously, we assigned the genes for two autosomal recessive disorders, Meckel syndrome (MKS; MIM 249000) and Mulibrey Nanism [MUL (muscle–liver–brain–eye Nanism); MIM 253250] that are...
Mouse Palmitoyl Protein Thioesterase: Gene Structure and Expression of cDNA
Salonen, Tarja, Hellsten, Elina, Horelli-Kuitunen, Nina, Peltonen, Leena, Jalanko, Anu
Palmitoyl protein thioesterase (PPT) is the defective enzyme in infantile neuronal ceroid lipofuscinosis (INCL), which is a recessively inherited, progressive neurodegenerative disorder. We present...
A System for Specific, High-throughput Genotyping by Allele-specific Primer Extension on Microarrays
Pastinen, Tomi, Raitio, Mirja, Lindroos, Katarina, Tainola, Päivi, Peltonen, Leena, Syvänen, Ann-Christine
This study describes a practical system that allows high-throughput genotyping of single nucleotide polymorphisms (SNPs) and detection of mutations by allele-specific extension on primer arrays. The...
Auranen, Mari, Vanhala, Raija, Varilo, Teppo, Ayers, Kristin, Kempas, Elli, Ylisaukko-oja, Tero, ...
To identify genetic loci for autism-spectrum disorders, we have performed a two-stage genomewide scan in 38 Finnish families. The detailed clinical examination of all family members revealed...
Visapää, Ilona, Fellman, Vineta, Vesa, Jouni, Dasvarma, Ayan, Hutton, Jenna L., Kumar, Vijay, ...
GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a recessively inherited lethal disease characterized by fetal growth retardation,...
RHD Maternal-Fetal Genotype Incompatibility Increases Schizophrenia Susceptibility
Palmer, Christina G. S., Turunen, Joni A., Sinsheimer, Janet S., Minassian, Sonia, Paunio, Tiina, Lönnqvist, Jouko, ...
Fetal events and obstetric complications are associated with schizophrenia. Here we report the results of a family-based candidate-gene study that assesses the role of maternal-fetal genotype...
Hackman, Peter, Vihola, Anna, Haravuori, Henna, Marchand, Sylvie, Sarparanta, Jaakko, De Seze, Jerome, ...
Tibial muscular dystrophy (TMD) is an autosomal dominant late-onset distal myopathy linked to chromosome 2q31. The linked region includes the giant TTN gene, which encodes the central sarcomeric...
Paloneva, Juha, Manninen, Tuula, Christman, Grant, Hovanes, Karine, Mandelin, Jami, Adolfsson, Rolf, ...
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as “Nasu-Hakola disease,” is a globally distributed recessively inherited disease leading to death...
A Susceptibility Locus for Migraine with Aura, on Chromosome 4q24
Wessman, Maija, Kallela, Mikko, Kaunisto, Mari A., Marttila, Pia, Sobel, Eric, Hartiala, Jaana, ...
Migraine is a complex neurovascular disorder with substantial evidence supporting a genetic contribution. Prior attempts to localize susceptibility loci for common forms of migraine have not produced...
Soro, Aino, Pajukanta, Päivi, Lilja, Heidi E., Ylitalo, Kati, Hiekkalinna, Tero, Perola, Markus, ...
We performed a genomewide scan for genes that predispose to low serum HDL cholesterol (HDL-C) in 25 well-defined Finnish families that were ascertained for familial low HDL-C and premature coronary...
Segmental Duplications Flank the Multiple Sclerosis Locus on Chromosome 17q
Chen, Daniel C., Saarela, Janna, Clark, Royden A., Miettinen, Timo, Chi, Anthony, Eichler, Evan E., ...
Large chromosomal rearrangements, duplications, and inversions are relatively common in mammalian genomes. Here we report interesting features of DNA strands flanking a Multiple Sclerosis (MS)...
Pajukanta, Päivi, Allayee, Hooman, Krass, Kelly L., Kuraishy, Ali, Soro, Aino, Lilja, Heidi E., ...
Several genomewide screens have been performed to identify novel loci predisposing to unfavorable serum lipid levels and coronary heart disease (CHD). We hypothesized that the accumulating data of...
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part II: Schizophrenia
Lewis, Cathryn M., Levinson, Douglas F., Wise, Lesley H., DeLisi, Lynn E., Straub, Richard E., Hovatta, Iiris, ...
Schizophrenia is a common disorder with high heritability and a 10-fold increase in risk to siblings of probands. Replication has been inconsistent for reports of significant genetic linkage. To...
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part III: Bipolar Disorder
Segurado, Ricardo, Detera-Wadleigh, Sevilla D., Levinson, Douglas F., Lewis, Cathryn M., Gill, Michael, ...
Genome scans of bipolar disorder (BPD) have not produced consistent evidence for linkage. The rank-based genome scan meta-analysis (GSMA) method was applied to 18 BPD genome scan data sets in an...
Autoproteolytic activation of human aspartylglucosaminidase.
Saarela, Jani, Oinonen, Carita, Jalanko, Anu, Rouvinen, Juha, Peltonen, Leena
Aspartylglucosaminidase (AGA) belongs to the N-terminal nucleophile (Ntn) hydrolase superfamily characterized by an N-terminal nucleophile as the catalytic residue. Three-dimensional structures of...
Perola, Markus, Öhman, Miina, Hiekkalinna, Tero, Leppävuori, Jenni, Pajukanta, Päivi, Wessman, Maija, ...
In recent years, many genomewide screens have been performed, to identify novel loci predisposing to various complex diseases. Often, only a portion of the collected clinical data from the study...
Aula, Nina, Salomäki, Pirjo, Timonen, Ritva, Verheijen, Frans, Mancini, Grazia, Månsson, Jan-Eric, ...
Lysosomal free sialic acid–storage diseases include the allelic disorders Salla disease (SD) and infantile sialic acid–storage disease (ISSD). The defective gene, SLC17A5, coding for the...
Pajukanta, Päivi, Cargill, Michele, Viitanen, Laura, Nuotio, Ilpo, Kareinen, Anu, Perola, Markus, ...
Coronary heart disease (CHD) is a complex disorder constituting a major health problem in Western societies. To assess the genetic background of CHD, we performed a genomewide linkage scan in two...
Björses, Petra, Halonen, Maria, Palvimo, Jorma J., Kolmer, Meelis, Aaltonen, Johanna, Ellonen, Pekka, ...
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a monogenic autosomal disease with recessive inheritance. It is characterized by multiple autoimmune endocrinopathies,...
Virolainen, Elina, Wessman, Maija, Hovatta, Iiris, Niemi, Kirsti-Maria, Ignatius, Jaakko, Kere, Juha, ...
Autosomal recessive congenital ichthyosis (ARCI) is a rare, clinically and genetically heterogeneous genodermatosis. One gene (transglutaminase 1, on 14q11) and one additional locus (on 2q33-35, with...
Leppävuori, Jenni, Kujala, Urho, Kinnunen, Jaakko, Kaprio, Jaakko, Nissilä, Martti, Heliövaara, Markku, ...
The genetic contribution to common forms of osteoarthritis (OA) is well established but poorly understood. We performed a genome scan, using 302 markers for loci predisposing to distal...
Assignment of the Locus for Hydrolethalus Syndrome to a Highly Restricted Region on 11q23-25
Visapää, Ilona, Salonen, Riitta, Varilo, Teppo, Paavola, Paulina, Peltonen, Leena
Hydrolethalus syndrome is a recessively inherited lethal malformation syndrome characterized by hydrocephaly with absent midline structures of the brain, micrognathia, polydactyly, and several other...
Hovatta, Iiris, Varilo, Teppo, Suvisaari, Jaana, Terwilliger, Joseph D., Ollikainen, Vesa, Arajärvi, Ritva, ...
Schizophrenia is a severe mental disorder affecting ∼1% of the world's population. Here, we report the results from a three-stage genomewide screen performed in a study sample from an internal...
Mutations in the Translated Region of the Lactase Gene (LCT) Underlie Congenital Lactase Deficiency
Kuokkanen, Mikko, Kokkonen, Jorma, Enattah, Nabil Sabri, Ylisaukko-oja, Tero, Komu, Hanna, Varilo, Teppo, ...
Congenital lactase deficiency (CLD) is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. We initially assigned...
PRKCA and Multiple Sclerosis: Association in Two Independent Populations
Saarela, Janna, Kallio, Suvi P, Chen, Daniel, Montpetit, Alexandre, Jokiaho, Anne, Choi, Eva, ...
Multiple sclerosis (MS) is a chronic disease of the central nervous system responsible for a large portion of neurological disabilities in young adults. Similar to what occurs in numerous complex...
Risk Alleles of USF1 Gene Predict Cardiovascular Disease of Women in Two Prospective Studies
Komulainen, Kati, Alanne, Mervi, Auro, Kirsi, Kilpikari, Riika, Pajukanta, Päivi, Saarela, Janna, ...
Upstream transcription factor 1 (USF1) is a ubiquitously expressed transcription factor controlling several critical genes in lipid and glucose metabolism. Of some 40 genes regulated by USF1, several...
Williams, Ruth, Vesa, Jouni, Järvelä, Irma, McKay, Tristan, Mitchison, Hannah, Hellsten, Elina, ...
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types....
Kainulainen, Katariina, Steinmann, Beat, Collins, Francis, Dietz, Harry C., Francomano, Clair A., Child, Anne, ...
Marfan syndrome is a dominantly inherited connective tissue disorder with manifestations in the cardiovascular, ocular, and skeletal systems. The diagnosis is hampered by both high variability in the...
Myllylä, Timo, Peltonen, Leena, Puranen, Jaakko, Korhonen, L. Kalevi
The state of 36 knee joints of 32 rheumatic patients was evaluated after surgical synovectomy, the follow-up period varying from 2 to 39 months. Synovitis was suspected by arthroscopy in 67% and...
HLA-B Maternal-Fetal Genotype Matching Increases Risk of Schizophrenia
Palmer, Christina G. S., Hsieh, Hsin-Ju, Reed, Elaine F., Lonnqvist, Jouko, Peltonen, Leena, Woodward, J. Arthur, ...
Schizophrenia and human leukocyte antigen (HLA) matching between couples or between mothers and offspring have independently been associated with prenatal/obstetric complications, including...
Combined Genome Scans for Body Stature in 6,602 European Twins: Evidence for Common Caucasian Loci
Perola, Markus, Sammalisto, Sampo, Hiekkalinna, Tero, Martin, Nick G, Visscher, Peter M, Montgomery, Grant W, ...
Twin cohorts provide a unique advantage for investigations of the role of genetics and environment in the etiology of variation in common complex traits by reducing the variance due to environment,...
Comparison of GenFlex Tag Array and Pyrosequencing in SNP Genotyping
Chen, Daniel C., Saarela, Janna, Nuotio, Ilpo, Jokiaho, Anne, Peltonen, Leena, Palotie, Aarno
With the completion of the Human Genome Project, over 2 million sequence-verified single nucleotide polymorphisms (SNPs) have been deposited in public databases. The challenge has shifted from SNP...
Combined Effects of Thrombosis Pathway Gene Variants Predict Cardiovascular Events
Auro, Kirsi, Alanne, Mervi, Kristiansson, Kati, Silander, Kaisa, Kuulasmaa, Kari, Salomaa, Veikko, ...
The genetic background of complex diseases is proposed to consist of several low-penetrance risk loci. Addressing this complexity likely requires both large sample size and simultaneous analysis of...
Saccone, Scott F., Pergadia, Michele L., Loukola, Anu, Broms, Ulla, Montgomery, Grant W., Wang, Jen C., ...
We conducted a genomewide linkage screen of a simple heavy-smoking quantitative trait, the maximum number of cigarettes smoked in a 24-h period, using two independent samples: 289 Australian and 155...
Finding disease candidate genes by liquid association
Li, Ker-Chau, Palotie, Aarno, Yuan, Shinsheng, Bronnikov, Denis, Chen, Daniel, Wei, Xuelian, ...
A novel approach to finding candidate genes by using gene-expression data has been developed and used to identify a multiple sclerosis susceptibility candidate genes.
Liston, Adrian, Gray, Daniel H.D., Lesage, Sylvie, Fletcher, Anne L., Wilson, Judith, Webster, Kylie E., ...
Inactivation of the autoimmune regulator (Aire) gene causes a rare recessive disorder, autoimmune polyendocrine syndrome 1 (APS1), but it is not known if Aire-dependent tolerance mechanisms are...
Promiscuous gene expression in thymic epithelial cells is regulated at multiple levels
Derbinski, Jens, Gäbler, Jana, Brors, Benedikt, Tierling, Sascha, Jonnakuty, Sunitha, Hergenhahn, Manfred, ...
The role of central tolerance induction has recently been revised after the discovery of promiscuous expression of tissue-restricted self-antigens in the thymus. The extent of tissue representation...
Pietiläinen, Kirsi H, Naukkarinen, Jussi, Rissanen, Aila, Saharinen, Juha, Ellonen, Pekka, Keränen, Heli, ...
Leena Peltonen and colleagues uncover the metabolic changes that result from obesity through an analysis of genetically identical twin pairs in which one was obese and the other was not.
DAP12/TREM2 Deficiency Results in Impaired Osteoclast Differentiation and Osteoporotic Features
Paloneva, Juha, Mandelin, Jami, Kiialainen, Anna, Böhling, Tom, Prudlo, Johannes, Hakola, Panu, ...
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), Nasu-Hakola disease, is a globally distributed recessively inherited disease. PLOSL is characterized by cystic...
Von Schantz, Carina, Saharinen, Juha, Kopra, Outi, Cooper, Jonathan D, Gentile, Massimiliano, Hovatta, Iiris, ...
Li, Weidong, Zhou, Yu, Jentsch, J. David, Brown, Robert A. M., Tian, Xiaoli, Ehninger, Dan, ...
Disrupted-in-schizophrenia 1 (DISC1) was initially discovered through a balanced translocation (1;11)(q42.1;q14.3) that results in loss of the C terminus of the DISC1 protein, a region that is...
Enattah, Nabil Sabri, Jensen, Tine G.K., Nielsen, Mette, Lewinski, Rikke, Kuokkanen, Mikko, Rasinpera, Heli, ...
The T−13910 variant located in the enhancer element of the lactase (LCT) gene correlates perfectly with lactase persistence (LP) in Eurasian populations whereas the variant is almost nonexistent...
Isolated populations and complex disease gene identification
Kristiansson, Kati, Naukkarinen, Jussi, Peltonen, Leena
Isolated populations can be useful for the identification of genes underlying common complex diseases.
Gender Differences in Genetic Risk Profiles for Cardiovascular Disease
Silander, Kaisa, Alanne, Mervi, Kristiansson, Kati, Saarela, Olli, Ripatti, Samuli, Auro, Kirsi, ...
Genes and Schizophrenia: Beyond Schizophrenia: The Role of DISC1 in Major Mental Illness
Hennah, William, Thomson, Pippa, Peltonen, Leena, Porteous, David
Schizophrenia and related disorders have a major genetic component, but despite much effort and many claims, few genes have been consistently replicated and fewer have biological support. One recent...
Sovio, Ulla, Bennett, Amanda J., Millwood, Iona Y., Molitor, John, O'Reilly, Paul F., Timpson, Nicholas J., ...
Recent genome-wide association (GWA) studies have identified dozens of common variants associated with adult height. However, it is unknown how these variants influence height growth during...
Consistently Replicating Locus Linked to Migraine on 10q22-q23
Anttila, Verneri, Nyholt, Dale R., Kallela, Mikko, Artto, Ville, Vepsäläinen, Salli, Jakkula, Eveliina, ...
Here, we present the results of two genome-wide scans in two diverse populations in which a consistent use of recently introduced migraine-phenotyping methods detects and replicates a locus on...
Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle
Tallila, Jonna, Jakkula, Eveliina, Peltonen, Leena, Salonen, Riitta, Kestilä, Marjo
Meckel syndrome (MKS) is a lethal malformation disorder characterized classically by encephalocele, polycystic kidneys, and polydactyly. MKS is also one of the major contributors to syndromic neural...
Genetic Structure of Europeans: A View from the North–East
Nelis, Mari, Esko, Tõnu, Mägi, Reedik, Zimprich, Fritz, Zimprich, Alexander, Toncheva, Draga, ...
Using principal component (PC) analysis, we studied the genetic constitution of 3,112 individuals from Europe as portrayed by more than 270,000 single nucleotide polymorphisms (SNPs) genotyped with...
AIRE regulates T-cell-independent B-cell responses through BAFF
Lindh, Emma, Lind, Sara M., Lindmark, Evelina, Hässler, Signe, Perheentupa, Jaakko, Peltonen, Leena, ...
Autoimmune polyendocrine syndrome type I (APS I) results in multiple endocrine organ destruction and is caused by mutations in the autoimmune regulator gene (AIRE). APS I is characterized by...
Silander, Kaisa, Tang, Hua, Myles, Sean, Jakkula, Eveliina, Timpson, Nicholas J, Cavalli-Sforza, Luigi, ...
A 100 kb region on 9p21.3 harbors two major disease susceptibility loci: one for type 2 diabetes (T2D) and one for coronary heart disease (CHD). The single nucleotide polymorphisms (SNPs) associated...
Kolz, Melanie, Johnson, Toby, Sanna, Serena, Teumer, Alexander, Vitart, Veronique, Perola, Markus, ...
Elevated serum uric acid levels cause gout and are a risk factor for cardiovascular disease and diabetes. To investigate the polygenetic basis of serum uric acid levels, we conducted a meta-analysis...
The Genome-wide Patterns of Variation Expose Significant Substructure in a Founder Population
Jakkula, Eveliina, Rehnström, Karola, Varilo, Teppo, Pietiläinen, Olli P.H., Paunio, Tiina, Pedersen, Nancy L., ...
Although high-density SNP genotyping platforms generate a momentum for detailed genome-wide association (GWA) studies, an offshoot is a new insight into population genetics. Here, we present an...
Timpson, Nicholas J., Tobias, Jon H., Richards, J. Brent, Soranzo, Nicole, Duncan, Emma L., Sims, Anne-Marie, ...
Peak bone mass achieved in adolescence is a determinant of bone mass in later life. In order to identify genetic variants affecting bone mineral density (BMD), we performed a genome-wide association...
Lindgren, Cecilia M., Heid, Iris M., Randall, Joshua C., Lamina, Claudia, Steinthorsdottir, Valgerdur, Qi, Lu, ...
To identify genetic loci influencing central obesity and fat distribution, we performed a meta-analysis of 16 genome-wide association studies (GWAS, N = 38,580) informative for adult waist...
Mustelin, Linda, Pietiläinen, Kirsi H., Rissanen, Aila, Sovijärvi, Anssi R., Piirilä, Päivi, Naukkarinen, Jussi, ...
Defects in expression of genes of oxidative phosphorylation in mitochondria have been suggested to be a key pathophysiological feature in familial insulin resistance. We examined whether such defects...
Variants in TF and HFE Explain ∼40% of Genetic Variation in Serum-Transferrin Levels
Benyamin, Beben, McRae, Allan F., Zhu, Gu, Gordon, Scott, Henders, Anjali K., Palotie, Aarno, ...
Only a small proportion of genetic variation in complex traits has been explained by SNPs from genome-wide association studies (GWASs). We report the results from two GWASs for serum markers of iron...
Perttilä, Julia, Merikanto, Krista, Naukkarinen, Jussi, Surakka, Ida, Martin, Nicolas W., Tanhuanpää, Kimmo, ...
Analysis of variants in three genes encoding oxysterol-binding protein (OSBP) homologues (OSBPL2, OSBPL9, OSBPL10) in Finnish families with familial low high-density lipoprotein (HDL) levels...
Lindgren, Cecilia M., Heid, Iris M., Randall, Joshua C., Lamina, Claudia, Steinthorsdottir, Valgerdur, Qi, Lu, ...
Genome-wide Association Study of Smoking Initiation and Current Smoking
Vink, Jacqueline M., Smit, August B., Sullivan, Patrick, Willemsen, Gonneke, Hottenga, Jouke-Jan, ...
For the identification of genes associated with smoking initiation and current smoking, genome-wide association analyses were carried out in 3497 subjects. Significant genes that replicated in three...
The role of the CD58 locus in multiple sclerosis
De Jager, Philip L., Baecher-Allan, Clare, Maier, Lisa M., Arthur, Ariel T., Ottoboni, Linda, Barcellos, Lisa, ...
Multiple sclerosis (MS) is an inflammatory disease of the central nervous system associated with demyelination and axonal loss. A whole genome association scan suggested that allelic variants in the...
A high-density association screen of 155 ion transport genes for involvement with common migraine
Nyholt, Dale R., LaForge, K. Steven, Kallela, Mikko, Alakurtti, Kirsi, Anttila, Verneri, Färkkilä, Markus, ...
The clinical overlap between monogenic Familial Hemiplegic Migraine (FHM) and common migraine subtypes, and the fact that all three FHM genes are involved in the transport of ions, suggest that ion...
Orho-Melander, Marju, Melander, Olle, Guiducci, Candace, Perez-Martinez, Pablo, Corella, Dolores, Roos, Charlotta, ...
OBJECTIVE—Using the genome-wide association approach, we recently identified the glucokinase regulatory protein gene (GCKR, rs780094) region as a novel quantitative trait locus for plasma...
Geographical structure and differential natural selection among North European populations
McEvoy, Brian P., Montgomery, Grant W., McRae, Allan F., Ripatti, Samuli, Perola, Markus, Spector, Tim D., ...
Population structure can provide novel insight into the human past, and recognizing and correcting for such stratification is a practical concern in gene mapping by many association methodologies. We...