Li Guocao, Zhang Rongfeng, Gao Lianjun, Zhang Shulong, Dong Yingxue, Yin Xiaomeng, Chang Dong, Yang Yanzong, Xia Yunlong
First Affiliated Hospital of Dalian Medical University Dalian, China.
Int J Clin Exp Pathol. 2014 Jun 15;7(7):4339-44. eCollection 2014.
A novel gene Caveolin-1(CAV1) was identified to be susceptibility to PR interval and also associated with atrial fibrillation (AF) in two Genome wide associations studies (GWAS) studies in European ancestry. The purpose of this study was to determine the association of the SNPs in CAV1 gene of rs3807989 with AF in Chinese Han patients.
We attempted a replication in a cohort of 839 Chinese AF patients and 1215 healthy controls using melting temperature shift allele-specific genotyping analysis. One SNP in CAV1 (rs3807989) was genotyped. The final study cohort consisted of 839 AF patients and 1215 healthy controls. No significant association was detected between rs3807989 and AF in a Chinese Han population (allelic P-adj = 0.828 with OR = 1.02; genotypic P-adj = 0.815, 0.405, 0.760 with a dominant model, recessive model, and additive model). After logistic regression with multiple covariates, the association remained non-significant with adjusted P value 0.828. When the AF cases were further divided into lone AF (31.5%) and other types of AF (68.5%), no significant association was found between rs3807989 and lone AF (P-adj = 0.929 with OR = 0.990) and other types of AF (P-adj = 0.597 with OR = 1.060).
The SNP rs3807989 in CAV1 gene is not associated with AF or lone AF in our studies, which suggests that the SNP rs3807989 in CAV1 may not be a risk factor for AF in Chinese Han population.
在两项针对欧洲血统人群的全基因组关联研究(GWAS)中,一种新基因小窝蛋白1(CAV1)被确定与PR间期易感性有关,并且还与心房颤动(AF)相关。本研究的目的是确定中国汉族患者中CAV1基因的单核苷酸多态性(SNP)rs3807989与AF的关联。
我们尝试在839例中国AF患者和1215例健康对照组成的队列中,使用熔解温度移位等位基因特异性基因分型分析进行重复研究。对CAV1基因中的一个SNP(rs3807989)进行基因分型。最终的研究队列包括839例AF患者和1215例健康对照。在中国汉族人群中,未检测到rs3807989与AF之间存在显著关联(等位基因P校正值 = 0.828,比值比(OR)= 1.02;基因型P校正值在显性模型、隐性模型和加性模型下分别为0.815、0.405、0.760)。在对多个协变量进行逻辑回归后,校正后的P值为0.828,关联仍不显著。当将AF病例进一步分为孤立性AF(31.5%)和其他类型的AF(68.5%)时,未发现rs3807989与孤立性AF(P校正值 = 0.929,OR = 0.990)以及其他类型的AF(P校正值 = 0.597,OR = 1.060)之间存在显著关联。
在我们的研究中,CAV1基因中的SNP rs3807989与AF或孤立性AF均无关联,这表明CAV1基因中的SNP rs3807989可能不是中国汉族人群中AF的危险因素。