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位于4号染色体4q25区域的rs6817105多态性与中国汉族人群的房颤风险相关。

The rs6817105 polymorphism on chromosome 4q25 is associated with the risk of atrial fibrillation in the Chinese Han population.

作者信息

Fang Zhen, Liu Yaowu, Ni Buqing, Chen Xin-Guang, Zhao Liyan, Zhang Fengxiang

机构信息

Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, Nanjing Jiangsu-China.

Department of Cardiothoracic Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing Jiangsu-China.

出版信息

Anatol J Cardiol. 2016 Sep;16(9):662-666. doi: 10.5152/AnatolJCardiol.2015.6542. Epub 2015 Nov 25.

DOI:10.5152/AnatolJCardiol.2015.6542
PMID:27488752
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5331349/
Abstract

OBJECTIVE

Previous genome-wide association studies (GWASs) have identified rs6817105-a single nucleotide polymorphism (SNP) on chromosome 4q25-to be associated with the risk of atrial fibrillation (AF) in a European-descent population. We recently demonstrated this association in a large cohort of Japanese ancestry. Our present study was designed to determine this association in the Chinese Han population.

METHODS

This case-control study included 597 AF cases and 996 AF-free controls, and rs6817105 SNPs were genotyped using the TaqMan allelic discrimination assay. Odds ratios (ORs) and 95% confidence intervals (95%CIs) were calculated in logistic regression models.

RESULTS

The genotype distribution of rs6817105-CC was significantly more frequent in the AF patients than in the controls (p=3.24×10-32). In our study, logistic regression analysis showed a strong association between rs6817105 and the risk of AF (additive model: OR=2.22, 95%CI=1.89-2.61, p=2.33×10-22; dominant model: OR=2.96, 95%CI: 2.16-4.07, p=2.03×10-11; recessive model: OR=2.83, 95%CI=2.27-3.54, p=4.00×10-20). Stratification analyses showed a borderline statistical difference between subgroups of age for the association of rs6817105 with AF risk (p=0.049). However, further interactive analysis indicated no significant interaction between genotype of rs6817105 and age (p=0.178).

CONCLUSION

Our finding suggested that SNP rs6817105 may be associated with a high significant risk of AF in the Chinese Han population, although more replicative studies of larger sample size are needed to confirm this finding.

摘要

目的

既往全基因组关联研究(GWAS)已确定4号染色体4q25上的单核苷酸多态性(SNP)rs6817105与欧洲裔人群的房颤(AF)风险相关。我们最近在一个大型日本血统队列中证实了这种关联。本研究旨在确定中国汉族人群中的这种关联。

方法

这项病例对照研究纳入了597例AF患者和996例无AF的对照,使用TaqMan等位基因鉴别分析对rs6817105 SNP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(95%CI)。

结果

rs6817105-CC基因型在AF患者中的分布频率显著高于对照组(p=3.24×10-32)。在我们的研究中,逻辑回归分析显示rs6817105与AF风险之间存在强关联(相加模型:OR=2.22,95%CI=1.89-2.61,p=2.33×10-22;显性模型:OR=2.96,95%CI:2.16-4.07,p=2.03×10-11;隐性模型:OR=2.83,95%CI=2.27-3.54,p=4.00×10-20)。分层分析显示,rs6817105与AF风险关联在年龄亚组之间存在临界统计学差异(p=0.049)。然而,进一步的交互分析表明,rs681,7105基因型与年龄之间无显著交互作用(p=0.178)。

结论

我们的研究结果表明,SNP rs6817105可能与中国汉族人群中AF的高显著风险相关,尽管需要更多更大样本量的重复研究来证实这一发现。

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Homeobox transcription factor Pitx2: The rise of an asymmetry gene in cardiogenesis and arrhythmogenesis.同源盒转录因子 Pitx2:在心脏发生和心律失常发生中不对称基因的崛起。
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