Hakon Hakonarson

Common variants in polygenic schizophrenia (2009)

Glessner, Joseph T, Hakonarson, Hakon

Abstract Common variant single-nucleotide polymorphisms at the MHC locus have recently been associated with schizophrenia. Together with known associations with rare copy-number variants affecting...

ATOM: a powerful gene-based association test by combining optimally weighted markers (2009)

Li, Mingyao, Wang, Kai, Grant, Struan F. A., Hakonarson, Hakon, Li, Chun

Background: Large-scale candidate-gene and genome-wide association studies genotype multiple SNPs within or surrounding a gene, including both tag and functional SNPs. The immense amount of data...

Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy (2009)

Attiyeh, Edward F., Diskin, Sharon J., Attiyeh, Marc A., Mossé, Yaël P., Hou, Cuiping, Jackson, Eric M., ...

Microarrays are frequently used to profile genome-wide copy number (CN) aberrations. While generally robust for detecting CN variants in germline DNA, the methods used to derive CN from signal...

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications (2009)

Shaikh, Tamim H., Gai, Xiaowu, Perin, Juan C., Glessner, Joseph T., Xie, Hongbo, Murphy, Kevin, ...

We present a database of copy number variations (CNVs) detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, comprised mainly of...

Multiple testing in genome-wide association studies via hidden Markov models (2009)

Wei, Zhi, Sun, Wenguang, Wang, Kai, Hakonarson, Hakon

Motivation: Genome-wide association studies (GWAS) interrogate common genetic variation across the entire human genome in an unbiased manner and hold promise in identifying genetic variants with...

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. (2008)

Keating, Brendan J, Tischfield, Sam, Murray, Sarah S, Bhangale, Tushar, Price, Thomas S, Glessner, Joseph T, ...

A wealth of genetic associations for cardiovascular and metabolic phenotypes in humans has been accumulating over the last decade, in particular a large number of loci derived from recent genome wide...

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms (2008)

Diskin, Sharon J., Li, Mingyao, Hou, Cuiping, Yang, Shuzhang, Glessner, Joseph, Hakonarson, Hakon, ...

Whole-genome microarrays with large-insert clones designed to determine DNA copy number often show variation in hybridization intensity that is related to the genomic position of the clones. We found...

Modeling genetic inheritance of copy number variations (2008)

Wang, Kai, Chen, Zhen, Tadesse, Mahlet G., Glessner, Joseph, Grant, Struan F. A., Hakonarson, Hakon, ...

Copy number variations (CNVs) are being used as genetic markers or functional candidates in gene-mapping studies. However, unlike single nucleotide polymorphism or microsatellite genotyping...

PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data (2007)

Wang, Kai, Li, Mingyao, Hadley, Dexter, Liu, Rui, Glessner, Joseph, Grant, Struan F.A., ...

Comprehensive identification and cataloging of copy number variations (CNVs) is required to provide a complete view of human genetic variation. The resolution of CNV detection in previous...

Familial aggregation of atrial fibrillation in Iceland (2006)

Arnar, David O, Thorvaldsson, Sverrir, Manolio, Teri A, Thorgeirsson, Gudmundur, Kristjansson, Kristleifur, Hakonarson, Hakon, ...

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Familial aggregation of atrial fibrillation in Iceland (2006)

Arnar, David O., Thorvaldsson, Sverrir, Manolio, Teri A., Thorgeirsson, Gudmundur, Kristjansson, Kristleifur, Hakonarson, Hakon, ...

Aims To examine the heritability of atrial fibrillation (AF) in Icelanders, utilizing a nationwide genealogy database and population-based data on AF. AF is a disorder with a high prevalence, which...

Familial aggregation of atrial fibrillation in Iceland (2006)

Arnar, David O., Thorvaldsson, Sverrir, Manolio, Teri A., Thorgeirsson, Gudmundur, Kristjansson, Kristleifur, Hakonarson, Hakon, ...

Aims To examine the heritability of atrial fibrillation (AF) in Icelanders, utilizing a nationwide genealogy database and population-based data on AF. AF is a disorder with a high prevalence, which...

Systematic review and meta-analysis of the association between beta(2)-adrenoceptor polymorphisms and asthma: A HuGE review (2005)

Thakkinstian, Ammarin, McEvoy, Mark, Helms, Peter Joseph, Hakonarson, Hakon, Halpi, Eva, Navon, Ruth, ...

A number of studies have investigated two common polymorphisms in the ß2-adrenoceptor gene, Arg/Gly16 and Gln/Glu27, in relation to asthma susceptibility. The authors performed a meta-analysis of...

Systematic review and meta-analysis of the association between beta(2)-adrenoceptor polymorphisms and asthma: A HuGE review (2005)

Thakkinstian, Ammarin, McEvoy, Mark, Helms, Peter Joseph, Hakonarson, Hakon, Halpi, Eva, Navon, Ruth, ...

A number of studies have investigated two common polymorphisms in the ß2-adrenoceptor gene, Arg/Gly16 and Gln/Glu27, in relation to asthma susceptibility. The authors performed a meta-analysis of...

Systematic Review and Meta-Analysis of the Association between {beta}2-Adrenoceptor Polymorphisms and Asthma: A HuGE Review (2005)

Thakkinstian, Ammarin, McEvoy, Mark, Minelli, Cosetta, Gibson, Peter, Hancox, Bob, Duffy, David, ...

A number of studies have investigated two common polymorphisms in the β2-adrenoceptor gene, Arg/Gly16 and Gln/Glu27, in relation to asthma susceptibility. The authors performed a meta-analysis of...

Systematic Review and Meta-Analysis of the Association between {beta}2-Adrenoceptor Polymorphisms and Asthma: A HuGE Review (2005)

Thakkinstian, Ammarin, McEvoy, Mark, Minelli, Cosetta, Gibson, Peter, Hancox, Bob, Duffy, David, ...

A number of studies have investigated two common polymorphisms in the β2-adrenoceptor gene, Arg/Gly16 and Gln/Glu27, in relation to asthma susceptibility. The authors performed a meta-analysis of...

Systematic Review and Meta-Analysis of the Association between {beta}2-Adrenoceptor Polymorphisms and Asthma: A HuGE Review (2005)

Thakkinstian, Ammarin, McEvoy, Mark, Minelli, Cosetta, Gibson, Peter, Hancox, Bob, Duffy, David, ...

A number of studies have investigated two common polymorphisms in the β2-adrenoceptor gene, Arg/Gly16 and Gln/Glu27, in relation to asthma susceptibility. The authors performed a meta-analysis of...

Association of vitamin D binding protein variants with chronic mucus hypersecretion in Iceland (2004)

Laufs, Jürgen, Andrason, Hjalti, Sigvaldason, Andres, Halapi, Eva, Thorsteinsson, Leifur, Jónasson, Kristján, ...

BACKGROUND: Previous studies of vitamin D binding protein (VDBP, also known as group-specific component, Gc, encoded by the GC gene) have implicated two gene variants, GC*2 and GC*1F, as possible...

A major susceptibility gene for asthma maps to chromosome 14q24 (2002)

Hakonarson, Hakon, Bjornsdottir, Unnur S, Halapi, Eva, Palsson, Snaebjorn, Adalsteinsdottir, Elva, Gislason, David, ...

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Regulation of TH1- and TH2-type cytokine expression and action in atopic asthmatic sensitized airway smooth muscle

Hakonarson, Hakon, Maskeri, Neil, Carter, Carrie, Grunstein, Michael M.

CD4+ T helper (TH)1- and TH2-type cytokines reportedly play an important role in the pathobiology of asthma. Recent evidence suggests that proasthmatic changes in airway smooth muscle (ASM)...

Autocrine interaction between IL-5 and IL-1β mediates altered responsiveness of atopic asthmatic sensitized airway smooth muscle

Hakonarson, Hakon, Maskeri, Neil, Carter, Carrie, Chuang, Sing, Grunstein, Michael M.

T-helper type 2 (Th2) cytokines have been implicated in the pathogenesis of the pulmonary inflammatory response and altered bronchial responsiveness in allergic asthma. To elucidate the mechanism of...

Profiling of genes expressed in peripheral blood mononuclear cells predicts glucocorticoid sensitivity in asthma patients

Hakonarson, Hakon, Bjornsdottir, Unnur S., Halapi, Eva, Bradfield, Jonathan, Zink, Florian, Mouy, Magali, ...

Gene expression profiles were examined in freshly isolated peripheral blood mononuclear cells (PBMC) from two independent cohorts (training and test sets) of glucocorticoid (GC)-sensitive (n = 64)...

A Major Susceptibility Gene for Asthma Maps to Chromosome 14q24

Hakonarson, Hakon, Bjornsdottir, Unnur S., Halapi, Eva, Palsson, Snaebjorn, Adalsteinsdottir, Elva, Gislason, David, ...

Asthma is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. Numerous loci and candidate...

Regulation of TH1- and TH2-type cytokine expression and action in atopic asthmatic sensitized airway smooth muscle

Hakonarson, Hakon, Maskeri, Neil, Carter, Carrie, Grunstein, Michael M.

CD4+ T helper (TH)1- and TH2-type cytokines reportedly play an important role in the pathobiology of asthma. Recent evidence suggests that proasthmatic changes in airway smooth muscle (ASM)...

Autocrine interaction between IL-5 and IL-1β mediates altered responsiveness of atopic asthmatic sensitized airway smooth muscle

Hakonarson, Hakon, Maskeri, Neil, Carter, Carrie, Chuang, Sing, Grunstein, Michael M.

T-helper type 2 (Th2) cytokines have been implicated in the pathogenesis of the pulmonary inflammatory response and altered bronchial responsiveness in allergic asthma. To elucidate the mechanism of...

Profiling of genes expressed in peripheral blood mononuclear cells predicts glucocorticoid sensitivity in asthma patients

Hakonarson, Hakon, Bjornsdottir, Unnur S., Halapi, Eva, Bradfield, Jonathan, Zink, Florian, Mouy, Magali, ...

Gene expression profiles were examined in freshly isolated peripheral blood mononuclear cells (PBMC) from two independent cohorts (training and test sets) of glucocorticoid (GC)-sensitive (n = 64)...

Association Analysis of the FTO Gene with Obesity in Children of Caucasian and African Ancestry Reveals a Common Tagging SNP

Grant, Struan F. A., Li, Mingyao, Bradfield, Jonathan P., Kim, Cecilia E., Annaiah, Kiran, Santa, Erin, ...

Recently an association was demonstrated between the single nucleotide polymorphism (SNP), rs9939609, within the FTO locus and obesity as a consequence of a genome wide association (GWA) study of...

PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

Wang, Kai, Li, Mingyao, Hadley, Dexter, Liu, Rui, Glessner, Joseph, Grant, Struan F.A., ...

Comprehensive identification and cataloging of copy number variations (CNVs) is required to provide a complete view of human genetic variation. The resolution of CNV detection in previous...

Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies

Keating, Brendan J., Tischfield, Sam, Murray, Sarah S., Bhangale, Tushar, Price, Thomas S., Glessner, Joseph T., ...

A wealth of genetic associations for cardiovascular and metabolic phenotypes in humans has been accumulating over the last decade, in particular a large number of loci derived from recent genome wide...

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

Diskin, Sharon J., Li, Mingyao, Hou, Cuiping, Yang, Shuzhang, Glessner, Joseph, Hakonarson, Hakon, ...

Whole-genome microarrays with large-insert clones designed to determine DNA copy number often show variation in hybridization intensity that is related to the genomic position of the clones. We found...

Genomic Landscape of a Three-Generation Pedigree Segregating Affective Disorder

Yang, Shuzhang, Wang, Kai, Gregory, Brittany, Berrettini, Wade, Wang, Li-San, Hakonarson, Hakon, ...

Bipolar disorder (BPD) is a common psychiatric illness with a complex mode of inheritance. Besides traditional linkage and association studies, which require large sample sizes, analysis of common...

Modeling genetic inheritance of copy number variations

Wang, Kai, Chen, Zhen, Tadesse, Mahlet G., Glessner, Joseph, Grant, Struan F. A., Hakonarson, Hakon, ...

Copy number variations (CNVs) are being used as genetic markers or functional candidates in gene-mapping studies. However, unlike single nucleotide polymorphism or microsatellite genotyping...

Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

Bucan, Maja, Abrahams, Brett S., Wang, Kai, Glessner, Joseph T., Herman, Edward I., Sonnenblick, Lisa I., ...

The genetics underlying the autism spectrum disorders (ASDs) is complex and remains poorly understood. Previous work has demonstrated an important role for structural variation in a subset of cases,...

Association Analysis of Type 2 Diabetes Loci in Type 1 Diabetes

Qu, Hui-Qi, Grant, Struan F.A., Bradfield, Jonathan P., Kim, Cecilia, Frackelton, Edward, Hakonarson, Hakon, ...

OBJECTIVE—To search for a possible association of type 1 diabetes with 10 validated type 2 diabetes loci, i.e., PPARG, KCNJ11, WFS1, HNF1B, IDE/HHEX, SLC30A8, CDKAL1, CDKN2A/B, IGF2BP2, and...

Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy

Attiyeh, Edward F., Diskin, Sharon J., Attiyeh, Marc A., Mossé, Yaël P., Hou, Cuiping, Jackson, Eric M., ...

Microarrays are frequently used to profile genome-wide copy number (CN) aberrations. While generally robust for detecting CN variants in germline DNA, the methods used to derive CN from signal...

Diverse Genome-wide Association Studies Associate the IL12/IL23 Pathway with Crohn Disease

Wang, Kai, Zhang, Haitao, Kugathasan, Subra, Annese, Vito, Bradfield, Jonathan P., Russell, Richard K., ...

Previous genome-wide association (GWA) studies typically focus on single-locus analysis, which may not have the power to detect the majority of genuinely associated loci. Here, we applied pathway...

From Disease Association to Risk Assessment: An Optimistic View from Genome-Wide Association Studies on Type 1 Diabetes

Wei, Zhi, Wang, Kai, Qu, Hui-Qi, Zhang, Haitao, Bradfield, Jonathan, Kim, Cecilia, ...

Genome-wide association studies (GWAS) have been fruitful in identifying disease susceptibility loci for common and complex diseases. A remaining question is whether we can quantify individual...

Genome-wide Association Analysis Identifies PDE4D as an Asthma-Susceptibility Gene

Himes, Blanca E., Hunninghake, Gary M., Baurley, James W., Rafaels, Nicholas M., Sleiman, Patrick, Strachan, David P., ...

Asthma, a chronic airway disease with known heritability, affects more than 300 million people around the world. A genome-wide association (GWA) study of asthma with 359 cases from the Childhood...