GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease
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- 作者：Bradley E Aouizerat (1)
Eric Vittinghoff (2)
Stacy L Musone (3)
Ludmila Pawlikowska (4)
Pui-Yan Kwok (5)
Jeffrey E Olgin (6)
Zian H Tseng (6) - 刊名：BMC Cardiovascular Disorders
- 出版年：2011
- 出版时间：December 2011
- 年：2011
- 卷：11
- 期：1
- 全文大小：274KB
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37. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2261/11/29/prepub - 作者单位：Bradley E Aouizerat (1)
Eric Vittinghoff (2)
Stacy L Musone (3)
Ludmila Pawlikowska (4)
Pui-Yan Kwok (5)
Jeffrey E Olgin (6)
Zian H Tseng (6)
1. Department of Physiological Nursing, Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, 94143, USA
2. Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA, 94143, USA
3. Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, 94143, USA
4. Department of Anesthesia and Perioperative Care, Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, 94143, USA
5. Cardiovascular Research Institute, Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, 94143, USA
6. Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, 94143, USA
文摘
Background Epidemiologic evidence suggests a heritable component to risk for sudden cardiac arrest independent of risk for myocardial infarction. Recent candidate gene association studies for community sudden cardiac arrests have focused on a limited number of biological pathways and yielded conflicting results. We sought to identify novel gene associations for sudden cardiac arrest in patients with coronary artery disease by performing a genome-wide association study. Methods Tagging SNPs (n = 338,328) spanning the genome were typed in a case-control study comparing 89 patients with coronary artery disease and sudden cardiac arrest due to ventricular tachycardia or ventricular fibrillation to 520 healthy controls. Results Fourteen SNPs including 7 SNPs among 7 genes (ACYP2, AP1G2, ESR1, DGES2, GRIA1, KCTD1, ZNF385B) were associated with sudden cardiac arrest (all p < 1.30 × 10-7), following Bonferroni correction and adjustment for population substructure, age, and sex; genetic variation in ESR1 (p = 2.62 × 10-8; Odds Ratio [OR] = 1.43, 95% confidence interval [CI]:1.277, 1.596) has previously been established as a risk factor for cardiovascular disease. In tandem, the role of 9 genes for monogenic long QT syndrome (LQT1-9) was assessed, yielding evidence of association with CACNA1C (LQT8; p = 3.09 × 10-4; OR = 1.18, 95% CI:1.079, 1.290). We also assessed 4 recently published gene associations for sudden cardiac arrest, validating NOS1AP (p = 4.50 × 10-2, OR = 1.15, 95% CI:1.003, 1.326), CSMD2 (p = 6.6 × 10-3, OR = 2.27, 95% CI:1.681, 2.859), and AGTR1 (p = 3.00 × 10-3, OR = 1.13, 95% CI:1.042, 1.215). Conclusion We demonstrate 11 gene associations for sudden cardiac arrest due to ventricular tachycardia/ventricular fibrillation in patients with coronary artery disease. Validation studies in independent cohorts and functional studies are required to confirm these associations.