Adiponectin I164T mutation is associated with the metabolic syndrome and coronary artery disease
Adiponectin I164T mutation is associated with the metabolic syndrome and coronary artery disease
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DOI：
10.1016/j.jacc.2003.10.049
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发表时间：
2004-04-07
影响因子：
24
通讯作者：
Matsuzawa, Y
中科院分区：
文献类型：
--
作者：
Ohashi, K;Ouchi, N;Matsuzawa, Y
本研究旨在探讨脂联素基因突变与冠状动脉疾病（CAD）患病率的关系。背景冠状动脉疾病是工业化国家死亡率的主要原因。脂联素基因位于染色体3q 27，是CAD的候选位点。我们已经报道，脂联素具有抗动脉粥样硬化和抗糖尿病的特性，血浆水平与体重指数（BMI）呈负相关的显着低CAD或2型diabetes.METHODS患者的研究对象是383例连续的血管造影证实的CAD和368非CAD受试者调整年龄和BMI在日本人口。通过Taqman聚合酶链反应（PCR）方法或基于PCR的限制性片段长度多态性分析法确定脂联素基因的单核苷酸多态性（SNP）。结果冠心病组I164 T突变频率（2.9%）显著高于对照组（0.8%）（p < 0.05）;携带I164 T突变的受试者血浆脂联素水平显著低于未携带突变的受试者，且与BMI无关。相反，SNP 94和SNP 276与2型糖尿病风险增加相关，但与CAD患病率和血浆脂联素水平均无关。I164 T突变的受试者表现出代谢综合征的临床表型。结论脂联素基因I164 T突变是日本人群中与代谢综合征和CAD相关的常见遗传背景。(C)2004年，美国心脏病学会基金会。
OBJECTIVES This study examined the association of mutations in adiponectin gene with the prevalence of coronary artery disease (CAD).BACKGROUND Coronary artery disease is a major cause of mortality in the industrial countries. Adiponectin gene locus, chromosome 3q27, is the candidate site for CAD. We have reported that adiponectin has antiatherogenic and antidiabetic properties, and that the plasma levels negatively correlated with body mass index (BMI) are significantly low in patients with CAD or type 2 diabetes.METHODS The study subjects were 383 consecutive patients with angiographically confirmed CAD and 368 non-CAD subjects adjusted for age and BMI in the Japanese population. Single nucleotide polymorphisms (SNPs) in the adiponectin gene were determined by Taqman polymerase chain reaction (PCR) method or a PCR-based assay for the analysis of restriction fragment length polymorphism. The plasma adiponectin concentration was measured by enzyme-linked immunosorbent assay.RESULTS Among SNPs, the frequency of I164T mutation was significantly higher in CAD subjects (2.9%) than in the control (0.8%, p < 0.05). The plasma adiponectin levels in subjects carrying the I164T mutation were significantly lower than in those without the mutation, and were independent of BMI. In contrast, SNP94 and SNP276, which are reported to be associated with an increased risk of type 2 diabetes, were associated neither with CAD prevalence nor with plasma adiponectin level. Subjects with I164T mutation exhibited a clinical phenotype of the metabolic syndrome.CONCLUSIONS The I164T mutation in the adiponectin gene was a common genetic background associated with the metabolic syndrome and CAD in the Japanese population. (C) 2004 by the American College of Cardiology Foundation.