Department of Cardiology, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan.
J Med Genet. 2011 Nov;48(11):787-92. doi: 10.1136/jmg.2010.088138. Epub 2011 Jul 22.
The authors previously showed that the C→T polymorphism (rs6929846) of butyrophilin, subfamily 2, member A1 gene (BTN2A1) was significantly associated with myocardial infarction in Japanese individuals. Given that metabolic syndrome (MetS) is an important risk factor for myocardial infarction, the association of the rs6929846 of BTN2A1 with myocardial infarction might be attributable, at least in part, to its effect on susceptibility to MetS.
The aim of the present study was to examine the relation of the rs6929846 of BTN2A1 to MetS in East Asian populations.
The study population comprised 5210 Japanese or Korean individuals (3982 individuals with MetS, 1228 controls) from three independent subject panels. Japanese subject panels A and B comprised 1322 individuals with MetS and 654 controls, and 1909 individuals with MetS and 170 controls, respectively, whereas the Korean population samples comprised 751 individuals with MetS and 404 controls.
Comparison of genotype distributions using the χ(2) test revealed that the genotype distributions and allele frequencies of rs6929846 were significantly (p<0.05) associated with MetS in Japanese subject panels A (T allele frequency: MetS, 0.091; controls, 0.054; p=6.1×10(-5)) and B (T allele frequency: MetS, 0.091; controls, 0.039; p=0013) but not in the Korean population samples (T allele frequency: MetS, 0.102; controls, 0.125; p=0.0997). Multivariable logistic regression analysis with adjustment for covariates revealed that the rs6929846 of BTN2A1 was significantly (p<0.017) associated with MetS in Japanese subject panel A (p=0.0055, OR 1.97) and in all individuals (p=0.0038, OR 1.38), with the T allele representing a risk factor for this condition.
BTN2A1 may be a susceptible gene for MetS in Japanese individuals.
作者先前表明，BTN2A1 基因（丁酰胆碱结合蛋白 2 亚家族成员 A1 基因）的 C→T 多态性（rs6929846）与日本人的心肌梗死显著相关。鉴于代谢综合征（MetS）是心肌梗死的一个重要危险因素，rs6929846 与心肌梗死的关联可能至少部分归因于其对 MetS 易感性的影响。
本研究旨在检验 BTN2A1 的 rs6929846 与东亚人群 MetS 的关系。
研究人群包括来自三个独立的受试者队列的 5210 名日本或韩国个体（3982 名 MetS 个体，1228 名对照者）。日本受试者队列 A 和 B 分别包括 1322 名 MetS 个体和 654 名对照者，1909 名 MetS 个体和 170 名对照者，而韩国人群样本则包括 751 名 MetS 个体和 404 名对照者。
通过 χ(2)检验比较基因型分布，发现 rs6929846 的基因型分布和等位基因频率与日本受试者队列 A（T 等位基因频率：MetS，0.091；对照组，0.054；p=6.1×10(-5)）和 B（T 等位基因频率：MetS，0.091；对照组，0.039；p=0013）中的 MetS 显著相关（p<0.05），但与韩国人群样本中的 MetS 不相关（T 等位基因频率：MetS，0.102；对照组，0.125；p=0.0997）。经调整协变量的多变量 logistic 回归分析显示，BTN2A1 的 rs6929846 与日本受试者队列 A（p=0.0055，OR 1.97）和所有个体（p=0.0038，OR 1.38）中的 MetS 显著相关（p<0.017），T 等位基因是该疾病的危险因素。
BTN2A1 可能是日本人 MetS 的易感基因。
