Liu Yaowu, Ni Bixian, Lin Yuan, Chen Xin-Guang, Chen Minglong, Hu Zhibin, Zhang Fengxiang
Department of Cardiology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
Pacing Clin Electrophysiol. 2015 Feb;38(2):164-70. doi: 10.1111/pace.12494. Epub 2014 Sep 5.
A recent meta-analysis of several genome-wide association studies identified six new susceptibility single nucleotide polymorphisms (SNPs) for atrial fibrillation (AF) in individuals of the European ancestry. We aimed to replicate the associations between these SNPs and the risk of AF in a Chinese Han population.
We genotyped six SNPs (rs3903239 in PRRX1, rs3807989 in CAV1, rs10821415 in C9orf3, rs10824026 in SYNPO2L, rs1152591 in SYNE2, and rs7164883 in HCN4) using the middle-throughput iPLEX Sequenom MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated in logistic regression models.
We enrolled a total of 1,593 Chinese Han origin individuals in the study, including 597 AF patients and 996 non-AF controls. Among the six SNPs analyzed in the study, the SNP rs3807989 in CAV1 on chromosome 7q31 was found to be significantly associated with a decreased risk of AF (crude OR = 0.76, 95% CI: 0.64-0.89, P = 0.001; adjusted OR = 0.75, 95% CI: 0.63-0.89, P = 0.001). There were no significant associations between the other five loci and AF risk.
Our results confirmed that CAV1 rs3807989 may contribute to a decreased AF risk in Chinese Han populations. However, further validation studies with different ethnic backgrounds and biological function analyses are warranted to confirm our finding.
最近一项对多项全基因组关联研究的荟萃分析，在欧洲血统个体中确定了六个新的心房颤动（AF）易感性单核苷酸多态性（SNP）。我们旨在在中国汉族人群中复制这些SNP与AF风险之间的关联。
我们使用中通量iPLEX Sequenom MassARRAY平台对六个SNP（PRRX1中的rs3903239、CAV1中的rs3807989、C9orf3中的rs10821415、SYNPO2L中的rs10824026、SYNE2中的rs1152591以及HCN4中的rs7164883）进行基因分型。在逻辑回归模型中计算比值比（OR）和95%置信区间（CI）。
我们共纳入了1593名中国汉族个体进行研究，包括597例AF患者和996例非AF对照。在研究分析的六个SNP中，发现位于7号染色体q31区域的CAV1中的SNP rs3807989与AF风险降低显著相关（粗OR = 0.76，95% CI：0.64 - 0.89，P = 0.001；校正后OR = 0.75，95% CI：0.63 - 0.89，P = 0.001）。其他五个位点与AF风险之间无显著关联。
我们的结果证实，CAV1 rs3807989可能有助于降低中国汉族人群的AF风险。然而，需要进一步进行不同种族背景的验证研究和生物学功能分析来证实我们的发现。
