Observational study on variability between biobanks in the estimation of DNA concentration (2009)
Brown, Jay, Donev, Alexander N, Aslanidis, Charalampos, Bracegirdle, Pippa, Dixon, Katherine P, Foedinger, Manuela, ...
Abstract Background There is little confidence in the consistency of estimation of DNA concentrations when samples move between laboratories. Evidence on this consistency is largely anecdotal....
Karakas, Mahir, Hoffmann, Michael M, Vollmert, Caren, Rothenbacher, Dietrich, Meisinger, Christa, Winkelmann, Bernhard, ...
Abstract Background The role of the Fcγ receptor IIa (FcγRIIa), a receptor for C-reactive protein (CRP), the classical acute phase protein, in atherosclerosis is not yet clear. We sought to...
Vogel, Carla IG, Scherag, André, Brönner, Günter, Nguyen, Thuy T, Wang, Hai-Jun, Grallert, Harald, ...
Abstract Background Gastric inhibitory polypeptide (GIP) is postulated to be involved in type 2 diabetes mellitus and obesity. It exerts its function through its receptor, GIPR. We genotyped three...
Vogel, Carla IG, Greene, Brandon, Scherag, André, Müller, Timo D, Friedel, Susann, Grallert, Harald, ...
Abstract Background A recent genome-wide association (GWA) study of U.S. Caucasians suggested that eight single nucleotide polymorphisms (SNPs) in CTNNBL1 are associated with obesity and increased...
Underlying Genetic Models of Inheritance in Established Type 2 Diabetes Associations (2009)
Salanti, Georgia, Southam, Lorraine, Altshuler, David, Ardlie, Kristin, Barroso, Inês, Boehnke, Michael, ...
For most associations of common single nucleotide polymorphisms (SNPs) with common diseases, the genetic model of inheritance is unknown. The authors extended and applied a Bayesian meta-analysis...
Org, Elin, Eyheramendy, Susana, Juhanson, Peeter, Gieger, Christian, Lichtner, Peter, Klopp, Norman, ...
Hypertension is a complex disease that affects a large proportion of adult population. Although approximately half of the inter-individual variance in blood pressure (BP) level is heritable,...
CYP450 polymorphisms as risk factors for early-onset lung cancer: gender-specific differences (2009)
Timofeeva, Maria N., Kropp, Silke, Sauter, Wiebke, Beckmann, Lars, Rosenberger, Albert, Illig, Thomas, ...
Cytochrome P450 (CYP) enzymes, involved in metabolism of tobacco carcinogens, are also involved in estrogen metabolism and many are regulated by estrogens. These genes may thus be of relevance to...
Common variants near MC4R are associated with fat mass, weight and risk of obesity (2008)
Loos, Ruth J.F., Lindgren, Cecilia M., Li, Shengxu, Wheeler, Eleanor, Zhao, Jing Hua, Prokopenko, Inga, ...
To identify common variants influencing body mass index (BMI), we analyzed genome-wide association data from 16,876 individuals of European descent. After previously reported variants in FTO, the...
Mittelstrass, Kirstin, Sauter, Wiebke, Rosenberger, Albert, Illig, Thomas, Timofeeva, Maria, Klopp, Norman, ...
Abstract The polymorphism SNP309 (rs2279744) in the promoter region of the MDM2 gene has been shown to alter protein expression and may play a role in the susceptibility to lung cancer. The MDM2...
Rosenberger, Albert, Illig, Thomas, Korb, Katrin, Klopp, Norman, Zietemann, Vera, Wölke, Gabi, ...
Abstract Background Early onset lung cancer shows some familial aggregation, pointing to a genetic predisposition. This study was set up to investigate the role of candidate genes in the...
Kolz, Melanie, Baumert, Jens, Müller, Martina, Khuseyinova, Natalie, Klopp, Norman, Thorand, Barbara, ...
Abstract Background Toll-like receptor 4 (TLR4), the signaling receptor for lipopolysaccharides, is an important member of the innate immunity system. Since several studies have suggested that type 2...
Rosenberger, Albert, Illig, Thomas, Korb, Katrin, Klopp, Norman, Zietemann, Vera, Wölke, Gabi, ...
Background: Early onset lung cancer shows some familial aggregation, pointing to a genetic predisposition. This study was set up to investigate the role of candidate genes in the susceptibility to...
Mittelstrass, Kirstin, Sauter, Wiebke, Rosenberger, Albert, Illig, Thomas, Timofeeva, Maria, Klopp, Norman, ...
Abstract: The polymorphism SNP309 (rs2279744) in the promoter region of the MDM2 gene has been shown to alter protein expression and may play a role in the susceptibility to lung cancer. The MDM2...
Sinner, Moritz F., Pfeufer, Arne, Akyol, Mahmut, Beckmann, Britt-Maria, Hinterseer, Martin, Wacker, Annette, ...
Aims Atrial fibrillation (AF) is the most frequent arrhythmia in humans. Rare familial forms exist. Recent evidence indicates a genetic susceptibility to common forms of AF. The α-subunit of the...
Kolz, Melanie, Koenig, Wolfgang, Müller, Martina, Andreani, Mariarita, Greven, Sonja, Illig, Thomas, ...
Aims C-reactive protein represents the classical acute-phase protein produced in the liver in response to inflammatory stimuli. This study evaluated the association of gene polymorphisms with...
Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma (2007)
Moffatt, Miriam F., Kabesch, Michael, Liang, Liming, Dixon, Anna L., Strachan, David, Heath, Simon, ...
Asthma is caused by a combination of poorly understood genetic and environmental factors(1,2). We have systematically mapped the effects of single nucleotide polymorphisms ( SNPs) on the presence of...
Akyol, Mahmut, Jalilzadeh, Shapour, Sinner, Moritz F., Perz, Siegfried, Beckmann, Britt M., Gieger, Christian, ...
Aims The QT interval in the general population is a complex trait with 30–50% heritability. QT prolongation is associated with an increased risk of sudden death. A recent family-based study found...
Akyol, Mahmut, Jalilzadeh, Shapour, Sinner, Moritz F., Perz, Siegfried, Beckmann, Britt M., Gieger, Christian, ...
Aims The QT interval in the general population is a complex trait with 30–50% heritability. QT prolongation is associated with an increased risk of sudden death. A recent family-based study found...
Graw, Jochen, Klopp, Norman, Illig, Thomas, Preising, Markus N., Lorenz, Birgit
BACKGROUND: An isolated form of congenital cataract associated with macular hypoplasia and a generally hypopigmented fundus in infancy was observed in a German family. To test the hypothesis that a...
Schedel, Michaela, Depner, Martin, Schoen, Carola, Weiland, Stephan K, Vogelberg, Christian, Niggemann, Bodo, ...
Abstract Background ADAM33 , the first asthma candidate gene identified by positional cloning, may be associated with childhood asthma, lung function decline and bronchial hyperresponsiveness....
Riemenschneider, Matthias, Konta, Lidija, Friedrich, Patricia, Schwarz, Sandra, Taddei, Kevin, Neff, Frauke, ...
A number of susceptibility loci for Alzheimer's disease (AD) have been identified including a region on Chromosome 10q21–q22. Within this region the plasminogen activator urokinase gene (PLAU) was...
Schaeffer, Linda, Gohlke, Henning, Müller, Martina, Heid, Iris M., Palmer, Lyle J., Kompauer, Iris, ...
Fatty acid composition in membranes plays an important role in cellular processes and has shown to be associated with the aetiology of several complex diseases in humans. We report strong...
Riemenschneider, Matthias, Konta, Lidija, Friedrich, Patricia, Schwarz, Sandra, Taddei, Kevin, Neff, Frauke, ...
A number of susceptibility loci for Alzheimer's disease (AD) have been identified including a region on Chromosome 10q21-q22. Within this region the plasminogen activator urokinase gene (PLAU) was...
Duetsch, Gabriele, Illig, Thomas, Loesgen, Sabine, Rohde, Klaus, Klopp, Norman, Herbon, Nicole, ...
The human signal transducer and activator of transcription 6 (STAT6) gene represents one of the most promising candidate genes for asthma and other inflammatory diseases on the chromosomal region...
Schedel, Michaela, Depner, Martin, Schoen, Carola, Weiland, Stephan K, Vogelberg, Christian, Niggemann, Bodo, ...
Weedon, Michael N., Schwarz, Peter E. H., Horikawa, Yukio, Iwasaki, Naoko, Illig, Thomas, Holle, Rolf, ...
Melanocortin-4 Receptor Gene Variant I103 Is Negatively Associated with Obesity
Geller, Frank, Reichwald, Kathrin, Dempfle, Astrid, Illig, Thomas, Vollmert, Caren, Herpertz, Stephan, ...
Several rare mutations in the melanocortin-4 receptor gene (MC4R) predispose to obesity. For the most common missense variant V103I (rs2229616), however, the previously reported similar carrier...
Linkage Disequilibrium Patterns and tagSNP Transferability among European Populations
Mueller, Jakob C., Lõhmussaar, Elin, Mägi, Reedik, Remm, Maido, Bettecken, Thomas, Lichtner, Peter, ...
The pattern of linkage disequilibrium (LD) is critical for association studies, in which disease-causing variants are identified by allelic association with adjacent markers. The aim of this study is...
Schedel, Michaela, Depner, Martin, Schoen, Carola, Weiland, Stephan K, Vogelberg, Christian, Niggemann, Bodo, ...
Hinney, Anke, Nguyen, Thuy Trang, Scherag, André, Friedel, Susann, Brönner, Günter, Müller, Timo Dirk, ...
Kolz, Melanie, Baumert, Jens, Müller, Martina, Khuseyinova, Natalie, Klopp, Norman, Thorand, Barbara, ...
Early onset lung cancer, cigarette smoking and the SNP309 of the murine double minute-2 (MDM2) gene
Mittelstrass, Kirstin, Sauter, Wiebke, Rosenberger, Albert, Illig, Thomas, Timofeeva, Maria, Klopp, Norman, ...
The polymorphism SNP309 (rs2279744) in the promoter region of the MDM2 gene has been shown to alter protein expression and may play a role in the susceptibility to lung cancer. The MDM2 protein is a...
Evidence for a Pathogenic Role of Different Mutations at Codon 188 of PRNP
Roeber, Sigrun, Grasbon-Frodl, Eva-Maria, Windl, Otto, Krebs, Bjarne, Xiang, Wei, Vollmert, Caren, ...
Clinical and pathological changes in familial Creutzfeldt-Jakob disease (CJD) cases may be similar or indistinguishable from sporadic CJD. Therefore determination of novel mutations in PRNP remains...
Genome-Wide Scan on Total Serum IgE Levels Identifies FCER1A as Novel Susceptibility Locus
Weidinger, Stephan, Gieger, Christian, Rodriguez, Elke, Baurecht, Hansjörg, Mempel, Martin, Klopp, Norman, ...
High levels of serum IgE are considered markers of parasite and helminth exposure. In addition, they are associated with allergic disorders, play a key role in anti-tumoral defence, and are crucial...
Genetics Meets Metabolomics: A Genome-Wide Association Study of Metabolite Profiles in Human Serum
Gieger, Christian, Geistlinger, Ludwig, Altmaier, Elisabeth, Hrabé De Angelis, Martin, Kronenberg, Florian, Meitinger, Thomas, ...
The rapidly evolving field of metabolomics aims at a comprehensive measurement of ideally all endogenous metabolites in a cell or body fluid. It thereby provides a functional readout of the...
Wang-Sattler, Rui, Yu, Yao, Mittelstrass, Kirstin, Lattka, Eva, Altmaier, Elisabeth, Gieger, Christian, ...
Exposure to nicotine during smoking causes a multitude of metabolic changes that are poorly understood. We quantified and analyzed 198 metabolites in 283 serum samples from the human cohort KORA...
Correction: Evidence for a Pathogenic Role of Different Mutations at Codon 188 of PRNP
Roeber, Sigrun, Grasbon-Frodl, Eva-Maria, Windl, Otto, Krebs, Bjarne, Xiang, Wei, Vollmert, Caren, ...
Vogel, Carla IG, Scherag, André, Brönner, Günter, Nguyen, Thuy T, Wang, Hai-Jun, Grallert, Harald, ...
On the Replication of Genetic Associations: Timing Can Be Everything!
Lasky-Su, Jessica, Lyon, Helen N., Emilsson, Valur, Heid, Iris M., Molony, Cliona, Raby, Benjamin A., ...
The failure of researchers to replicate genetic-association findings is most commonly attributed to insufficient statistical power, population stratification, or various forms of between-study...
Vogel, Carla IG, Greene, Brandon, Scherag, André, Müller, Timo D, Friedel, Susann, Grallert, Harald, ...
SLC30A8 (ZnT8) Polymorphism is Associated with Young Age at Type 1 Diabetes Onset
Gohlke, Henning, Ferrari, Uta, Koczwara, Kerstin, Bonifacio, Ezio, Illig, Thomas, Ziegler, Anette-G.
It was recently shown that the major allele of the SLC30A8 (zinc transporter 8, ZnT8) single nucleotide polymorphism (SNP) rs13266634 was associated with type 2 diabetes and with reduced insulin...
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...
Karakas, Mahir, Hoffmann, Michael M, Vollmert, Caren, Rothenbacher, Dietrich, Meisinger, Christa, Winkelmann, Bernhard, ...
Org, Elin, Eyheramendy, Susana, Juhanson, Peeter, Gieger, Christian, Lichtner, Peter, Klopp, Norman, ...
Hypertension is a complex disease that affects a large proportion of adult population. Although approximately half of the inter-individual variance in blood pressure (BP) level is heritable,...
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...
Targeting 160 Candidate Genes for Blood Pressure Regulation with a Genome-Wide Genotyping Array
Sõber, Siim, Org, Elin, Kepp, Katrin, Juhanson, Peeter, Eyheramendy, Susana, Gieger, Christian, ...
The outcome of Genome-Wide Association Studies (GWAS) has challenged the field of blood pressure (BP) genetics as previous candidate genes have not been among the top loci in these scans. We used...
A Genome-wide Association Study Identifies Three Loci Associated with Mean Platelet Volume
Meisinger, Christa, Prokisch, Holger, Gieger, Christian, Soranzo, Nicole, Mehta, Divya, Rosskopf, Dieter, ...
Mean platelet volume (MPV) is increased in myocardial and cerebral infarction and is an independent and strong predictor for postevent morbidity and mortality. We conducted a genome-wide association...
Brandstätter, Anita, Kiechl, Stefan, Kollerits, Barbara, Hunt, Steven C., Heid, Iris M., Coassin, Stefan, ...
OBJECTIVE—High serum uric acid levels lead to gout and have been reported to be associated with an increased risk of hypertension, obesity, metabolic syndrome, type 2 diabetes, and cardiovascular...
Lindgren, Cecilia M., Heid, Iris M., Randall, Joshua C., Lamina, Claudia, Steinthorsdottir, Valgerdur, Qi, Lu, ...
Ljungman, Petter, Bellander, Tom, Schneider, Alexandra, Breitner, Susanne, Forastiere, Francesco, Hampel, Regina, ...
The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation
Graw, Jochen, Schmidt, Werner, Minogue, Peter J., Rodriguez, Jessica, Tong, Jun-Jie, Klopp, Norman, ...
Heid, Iris M., Lamina, Claudia, Küchenhoff, Helmut, Fischer, Guido, Klopp, Norman, Kolz, Melanie, ...
Previously, estimation of genotype misclassification of single nucleotide polymorphisms (SNPs) as encountered in epidemiologic practice and involving thousands of subjects was lacking. The authors...
Observational study on variability between biobanks in the estimation of DNA concentration
Brown, Jay, Donev, Alexander N, Aslanidis, Charalampos, Bracegirdle, Pippa, Dixon, Katherine P, Foedinger, Manuela, ...
Heid, Iris M., Huth, Cornelia, Loos, Ruth J. F., Kronenberg, Florian, Adamkova, Vera, Anand, Sonia S., ...
The INSIG2 rs7566605 polymorphism was identified for obesity (BMI≥30 kg/m2) in one of the first genome-wide association studies, but replications were inconsistent. We collected statistics from 34...