Replication studies for the association of PSMA6 polymorphism with coronary artery disease in East Asian populations
Replication studies for the association of PSMA6 polymorphism with coronary artery disease in East Asian populations
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DOI：
10.1038/jhg.2009.22
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发表时间：
2009-04-01
影响因子：
3.5
通讯作者：
Kimura, Akinori
中科院分区：
文献类型：
--
作者：
Hinohara, Kunihiko;Nakajima, Toshiaki;Kimura, Akinori
冠状动脉疾病（CAD）由于其日益增加的患病率和高死亡率已成为许多国家的主要健康问题。近年来，研究发现人蛋白酶体亚单位6基因（PSMA 6）中的一个功能序列变异（-8C>G）与冠心病易感性有关。为了验证这种关联，我们调查了来自日本和韩国人群的1330例病例和2554例对照的PSMA 6基因型，在日本和韩国人群中均未获得这种关联的证据。（比值比（OR）=1.03，95%置信区间（CI）; 0.90-1.19，P=0.66，等位基因计数模型）和韩国人群（OR=1.00，95%CI; 0.86-1.17，P=0.95，等位基因计数模型）。然而，当对本研究和先前报道的6项重复研究的数据进行荟萃分析时，G等位基因的OR为1.08（95% CI; 1.02-1.14，P=0.0057），表明PSMA 6对CAD的贡献不足以容易重复。需要进一步的研究来确定这种变异在CAD易感性中的作用。Journal of Human Genetics（2009）54，248-251; doi：10.1038/jhg.2009.22; 2009年3月13日在线发表
Coronary artery disease (CAD) has become a major health problem in many countries because of its increasing prevalence and high mortality. Recently, an association of a functional sequence variation, -8C>G, in the human proteasome subunit a type 6 gene (PSMA6) with the susceptibility to CAD was reported. To validate the association, we investigated a total of 1330 cases and 2554 controls from Japanese and Korean populations for PSMA6 genotypes, and no evidence of the association was obtained in both Japanese (odds ratio (OR)=1.03, 95% confidence interval (CI); 0.90-1.19, P=0.66, allele count model) and Korean populations (OR=1.00, 95% CI; 0.86-1.17, P=0.95, allele count model). However, when a meta-analysis of data from this study and previously reported six replication studies was done, OR was 1.08 for the G allele (95% CI; 1.02-1.14, P=0.0057), suggesting that the contribution of PSMA6 to CAD was not large enough to be readily replicated. Further studies are required to establish the contribution of this variant in the susceptibility to CAD. Journal of Human Genetics (2009) 54, 248-251; doi: 10.1038/jhg.2009.22; published online 13 March 2009