GeneSet Information

Tier I GS267987 • GWAS Catalog Data for electrocardiography, PR interval in 6,543 Indian Asian ancestry individuals


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 ( The disease/trait examined in this study, as reported by the authors, was Electrocardiographic traits. The EFO term electrocardiography, PR interval 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.


GWAS: electrocardiography, PR interval









JC Chambers, J Zhao, CM Terracciano, CR Bezzina, W Zhang, R Kaba, M Navaratnarajah, A Lotlikar, JS Sehmi, MK Kooner, G Deng, U Siedlecka, S Parasramka, I El-Hamamsy, MN Wass, LR Dekker, JS de Jong, MJ Sternberg, W McKenna, NJ Severs, R de Silva, AA Wilde, P Anand, M Yacoub, J Scott, P Elliott, JN Wood, JS Kooner


Genetic variation in SCN10A influences cardiac conduction.


Nature genetics Feb 2010, Vol 42, pp. 149-52


To identify genetic factors influencing cardiac conduction, we carried out a genome-wide association study of electrocardiographic time intervals in 6,543 Indian Asians. We identified association of a nonsynonymous SNP, rs6795970, in SCN10A (P = 2.8 x 10(-15)) with PR interval, a marker of cardiac atrioventricular conduction. Replication testing among 6,243 Indian Asians and 5,370 Europeans confirmed that rs6795970 (G>A) is associated with prolonged cardiac conduction (longer P-wave duration, PR interval and QRS duration, P = 10(-5) to 10(-20)). SCN10A encodes Na(V)1.8, a sodium channel. We show that SCN10A is expressed in mouse and human heart tissue and that PR interval is shorter in Scn10a(-/-) mice than in wild-type mice. We also find that rs6795970 is associated with a higher risk of heart block (P < 0.05) and a lower risk of ventricular fibrillation (P = 0.01). Our findings provide new insight into the pathogenesis of cardiac conduction, heart block and ventricular fibrillation. PUBMED: 20062061
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