Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population
Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population
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染色体4q25上的rs2200733与中国汉族人群心房颤动和缺血性脑卒中的关联评估
DOI：
10.1007/s00439-009-0737-3
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发表时间：
2009-12-01
期刊：
影响因子：
5.3
通讯作者：
Wang, Qing Kenneth
中科院分区：
文献类型：
--
作者：
Shi, Lisong;Li, Cong;Wang, Qing Kenneth
心房颤动（AF）是临床上最常见的心律失常，也是卒中的独立危险因素。大约有1000万中国人患有房颤，但其遗传基础在很大程度上是未知的。冰岛最近的一项全基因组关联研究发现，4q25上的SNP rs2200733与AF之间存在关联；然而，许多独立的重复性研究对于明确证实这种关联至关重要。为了评估rs2200733与房颤之间以及rs2200733与中国大陆汉族人群缺血性卒中之间的关联，我们对383例房颤患者与851例非房颤对照、811例缺血性卒中患者与688例非卒中对照进行了病例对照关联研究。在中国汉族人群中，rs2200733与房房炎存在高度显著相关性（等位基因p = 3.7 × 10−11,OR = 1.81；基因型icp = 4.1 × 10−12，为显性模型）。将房颤分为单纯性房颤（32.6%）和其他类型房颤（67.4%），与单纯性房颤的相关性显著增强（OR = 2.40，P= 1.3 × 10−9，而其他类型房颤的OR = 1.59，P= 6.2 × 10−7，两种OR = 0.02）。rs2200733与缺血性卒中无显著相关性。我们的研究结果表明，SNP rs2200733在中国大陆更具代表性的汉族人群中具有高度显著的房颤风险，而不是缺血性卒中风险。
Atrial fibrillation (AF) is the most common arrhythmia in the clinical setting and an independent risk factor for stroke. Approximately 10 million Chinese people are affected by AF, but the genetic basis is largely unknown. A recent genome-wide association study in Iceland identified association between SNP rs2200733 on 4q25 and AF; however, many independent replication studies are essential to unequivocally validate this association. To assess the association between rs2200733 and AF as well as that between rs2200733 and ischemic stroke in a mainland Chinese Han population, we carried out case–control association studies with 383 AF patients versus 851 non-AF controls and 811 ischemic stroke patients versus 688 non-stroke controls. Highly significant association was detected between rs2200733 and AF in a Chinese Han population (allelicP= 3.7 × 10−11with OR = 1.81; genotypicP= 4.1 × 10−12with a dominant model). When the AF cases were divided into lone AF (32.6%) and other types of AF (67.4%), significantly stronger association was found with lone AF (OR = 2.40,P= 1.3 × 10−9compared to OR = 1.59,P= 6.2 × 10−7for other types of AF;P= 0.02 for two ORs). No significant association was found between rs2200733 and ischemic stroke. Our results suggest that SNP rs2200733 confers a highly significant risk of AF, but not ischemic stroke, in a more representative Chinese Han population in the mainland China.