DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Atrial fibrillation/atrial flutter. The EFO term atrial fibrillation was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: atrial fibrillation

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-09-27

SPECIES:

AUTHORS:

DF Gudbjartsson, DO Arnar, A Helgadottir, S Gretarsdottir, H Holm, A Sigurdsson, A Jonasdottir, A Baker, G Thorleifsson, K Kristjansson, A Palsson, T Blondal, P Sulem, VM Backman, GA Hardarson, E Palsdottir, A Helgason, R Sigurjonsdottir, JT Sverrisson, K Kostulas, MC Ng, L Baum, WY So, KS Wong, JC Chan, KL Furie, SM Greenberg, M Sale, P Kelly, CA MacRae, EE Smith, J Rosand, J Hillert, RC Ma, PT Ellinor, G Thorgeirsson, JR Gulcher, A Kong, U Thorsteinsdottir, K Stefansson

TITLE:

Variants conferring risk of atrial fibrillation on chromosome 4q25.

JOURNAL:

Nature Jul 2007, Vol 448, pp. 353-7

ABSTRACT:

Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia in humans and is characterized by chaotic electrical activity of the atria. It affects one in ten individuals over the age of 80 years, causes significant morbidity and is an independent predictor of mortality. Recent studies have provided evidence of a genetic contribution to AF. Mutations in potassium-channel genes have been associated with familial AF but account for only a small fraction of all cases of AF. We have performed a genome-wide association scan, followed by replication studies in three populations of European descent and a Chinese population from Hong Kong and find a strong association between two sequence variants on chromosome 4q25 and AF. Here we show that about 35% of individuals of European descent have at least one of the variants and that the risk of AF increases by 1.72 and 1.39 per copy. The association with the stronger variant is replicated in the Chinese population, where it is carried by 75% of individuals and the risk of AF is increased by 1.42 per copy. A stronger association was observed in individuals with typical atrial flutter. Both variants are adjacent to PITX2, which is known to have a critical function in left-right asymmetry of the heart. PUBMED: 17603472
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