scholarly journals A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21

2007 ◽  
Vol 39 (7) ◽  
pp. 827-829 ◽  
Author(s):  
David A van Heel ◽  
Lude Franke ◽  
Karen A Hunt ◽  
Rhian Gwilliam ◽  
Alexandra Zhernakova ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Risk Variants ◽  
Genome Wide ◽  
A Genome

scholarly journals A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q

2012 ◽  
Vol 10 (8) ◽  
pp. 1521-1531 ◽  
Author(s):  
J. A. HEIT ◽  
S. M. ARMASU ◽  
Y. W. ASMANN ◽  
J. M. CUNNINGHAM ◽  
M. E. MATSUMOTO ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Risk Variants ◽  
Genome Wide ◽  
A Genome

scholarly journals Erratum: A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

2010 ◽  
Vol 42 (8) ◽  
pp. 727-727 ◽  
Author(s):  
Terri H Beaty ◽  
Jeffrey C Murray ◽  
Mary L Marazita ◽  
Ronald G Munger ◽  
Ingo Ruczinski Jacqueline B Hetmanski ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Association Study ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Risk Variants ◽  
Genome Wide ◽  
A Genome

scholarly journals Genome-wide association study of 1 million people identifies 111 loci for atrial fibrillation

2018 ◽  
Author(s):  
Jonas B. Nielsen ◽  
Rosa B. Thorolfsdottir ◽  
Lars G. Fritsche ◽  
Wei Zhou ◽  
Morten W. Skov ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Striated Muscle ◽  
Heart Defects ◽  
Genome Wide Association ◽  
Deleterious Mutations ◽  
Risk Variants ◽  
Genome Wide ◽  
A Genome

SummaryTo understand the genetic variation underlying atrial fibrillation (AF), the most common cardiac arrhythmia, we performed a genome-wide association study (GWAS) of > 1 million people, including 60,620 AF cases and 970,216 controls. We identified 163 independent risk variants at 111 loci and prioritized 165 candidate genes likely to be involved in AF. Many of the identified risk variants fall near genes where more deleterious mutations have been reported to cause serious heart defects in humans or mice (MYH6, NKX2-5, PITX2, TBC1D32, TBX5),1,2 or near genes important for striated muscle function and integrity (e.g. MYH7, PKP2, SSPN, SGCA). Experiments in rabbits with heart failure and left atrial dilation identified a heterogeneous distributed molecular switch from MYH6 to MYH7 in the left atrium, which resulted in contractile and functional heterogeneity and may predispose to initiation and maintenance of atrial arrhythmia.

scholarly journals Genome-wide association study of depression phenotypes in UK Biobank (n = 322,580) identifies the enrichment of variants in excitatory synaptic pathways

2017 ◽  
Author(s):  
David M. Howard ◽  
Mark J. Adams ◽  
Masoud Shirali ◽  
Toni-Kim Clarke ◽  
Riccardo E. Marioni ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
International Classification Of Diseases ◽  
Population Based ◽  
Independent Study ◽  
Genome Wide Association ◽  
Uk Biobank ◽  
Risk Variants ◽  
Genome Wide ◽  
A Genome

AbstractDepression is a polygenic trait that causes extensive periods of disability and increases the risk of suicide, a leading cause of death in young people. Previous genetic studies have identified a number of common risk variants which have increased in number in line with increasing sample sizes. We conducted a genome-wide association study (GWAS) in the largest single population-based cohort to date, UK Biobank. This allowed us to estimate the effects of ≈ 8 million genetic variants in 320,000 people for three depression phenotypes: broad depression, probable major depressive disorder (MDD), and International Classification of Diseases (ICD, version 9 or 10)-coded MDD. Each phenotype was found to be significantly genetically correlated with the results from a previous independent study of clinically defined MDD. We identified 14 independent loci that were significantly associated (P < 5 × 10−8) with broad depression, two independent variants for probable MDD, and one independent variant for ICD-coded MDD. Gene-based analysis of our GWAS results with MAGMA revealed 46 regions significantly associated (P < 2.77 × 10−6) with broad depression, two significant regions for probable MDD and one significant region for ICD-coded MDD. Gene region-based analysis of our GWAS results with MAGMA revealed 59 regions significantly associated (P < 6.02 × 10−6) with broad depression, of which 27 were also detected by gene-based analysis. Variants for broad depression were enriched in pathways for excitatory neurotransmission, mechanosensory behavior, postsynapse, neuron spine and dendrite. This study provides a number of novel genetic risk variants that can be leveraged to elucidate the mechanisms of MDD and low mood.

scholarly journals A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

2010 ◽  
Vol 42 (6) ◽  
pp. 525-529 ◽  
Author(s):  
Terri H Beaty ◽  
Jeffrey C Murray ◽  
Mary L Marazita ◽  
Ronald G Munger ◽  
Ingo Ruczinski ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Association Study ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Risk Variants ◽  
Genome Wide ◽  
A Genome
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