Fujimaki Tetsuo, Kato Kimihiko, Oguri Mitsutoshi, Yohida Tetsuro, Horibe Hideki, Yokoi Kiyoshi, Watanabe Sachiro, Satoh Kei, Aoyagi Yukitoshi, Tanaka Masashi, Yoshida Hiroto, Shinkai Shoji, Nozawa Yoshinori, Shin Dong-Jik, Lee Jong Ho, Jang Yangsoo, Yamada Yoshiji
Department of Cardiovascular Medicine, Inabe General Hospital, Inabe;
Exp Ther Med. 2011 Jul;2(4):745-749. doi: 10.3892/etm.2011.266. Epub 2011 May 12.
We previously identified rs6929846 of the butyrophilin, subfamily 2, member A1 gene (BTN2A1) as a susceptibility locus for myocardial infarction in Japanese individuals by a genome-wide association study. The aim of the present study was to examine the relation of the rs6929846 polymorphism of BTN2A1 to dyslipidemia in Japanese and Korean populations, given that dyslipidemia is an important risk factor for myocardial infarction. A total of 10,953 individuals from three independent subject panels were examined. The relations of the rs6929846 polymorphism of BTN2A1 to serum concentrations of triglycerides, high-density lipoprotein (HDL)-cholesterol and low-density lipoprotein (LDL)-cholesterol were examined in each subject panel. The C→T polymorphism (rs6929846) of BTN2A1 was significantly associated with serum concentrations of triglycerides in Japanese subject panels A (P=0.0004) and B (P=0.0010), and in the Korean population (P=0.0095), with the minor T allele being related to an increased serum concentration of triglycerides. The rs6929846 was associated with serum concentrations of HDL-cholesterol in Japanese subject panels A (P=0.0047) and B (P=0.0015), with the T allele being related to a decreased serum concentration of HDL-cholesterol, but not in the Korean population. This polymorphism was associated with the serum concentration of LDL-cholesterol only in Japanese subject panel B (P=0.0059), with the T allele being related to an increased serum concentration of LDL-cholesterol. The results suggest that BTN2A1 may be a susceptibility gene for hypertriglyceridemia in East Asian populations and for low serum HDL-cholesterol in the Japanese population.
我们之前通过全基因组关联研究，将嗜乳脂蛋白亚家族2成员A1基因（BTN2A1）的rs6929846鉴定为日本人群中心肌梗死的一个易感基因座。鉴于血脂异常是心肌梗死的一个重要危险因素，本研究旨在探讨BTN2A1基因rs6929846多态性与日本和韩国人群血脂异常之间的关系。我们对来自三个独立受试者组的总共10953名个体进行了检测。在每个受试者组中，研究了BTN2A1基因rs6929846多态性与甘油三酯、高密度脂蛋白（HDL）胆固醇和低密度脂蛋白（LDL）胆固醇血清浓度之间的关系。BTN2A1基因的C→T多态性（rs6929846）在日本受试者组A（P=0.0004）和B（P=0.0010）以及韩国人群（P=0.0095）中与甘油三酯血清浓度显著相关，次要的T等位基因与甘油三酯血清浓度升高有关。rs6929846在日本受试者组A（P=0.0047）和B（P=0.0015）中与HDL胆固醇血清浓度相关，T等位基因与HDL胆固醇血清浓度降低有关，但在韩国人群中无此关联。这种多态性仅在日本受试者组B中与LDL胆固醇血清浓度相关（P=0.0059），T等位基因与LDL胆固醇血清浓度升高有关。结果表明，BTN2A1可能是东亚人群高甘油三酯血症以及日本人群低血清HDL胆固醇的一个易感基因。
