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首页> 外文期刊>Circulation journal >Association of the functional variant in the 3-hydroxy-3-methylglutaryl-coenzyme a reductase gene with low-density lipoprotein-cholesterol in Japanese.
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Association of the functional variant in the 3-hydroxy-3-methylglutaryl-coenzyme a reductase gene with low-density lipoprotein-cholesterol in Japanese.

机译：在日语中，3-羟基-3-甲基戊二酰辅酶a还原酶基因中的功能变体与低密度脂蛋白胆固醇的关联。

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摘要

BACKGROUND: The association between single nucleotide polymorphisms (SNPs) at 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) and low-density lipoprotein-cholesterol (LDL-C) levels has been well replicated in genome-wide association studies (GWAS) of white populations. Recently, the common intronic SNP of HMGCR (rs3846662) has been reported to be a functional variant, influencing the alternative splicing of exon 13. The aim of this study was to examine the association between rs3846662 of HMGCR and the level of LDL-C in Japanese. METHODS AND RESULTS: Significant differences in LDL-C levels were observed among the genotypes of rs3846662 (P=0.0002 (n=2,686) and P=0.004 (n=2,110)) for the Suita and Ehime samples, respectively. The G allele of rs3846662 was associated with higher LDL-C levels (beta, 3.56; P=4.91x10(-5)). Consistent with this observation, the risk G allele at rs3846662 was more prevalent in subjects with myocardial infarction (MI) (n=701) than in subjects without MI (n=3,118); 0.559 and 0.511 in MI cases and controls, respectively (nominal P=0.0038). The odds ratio adjusted for age, sex, diabetes, hypertension, and drinking and smoking habits was 1.15 (95% confidence interval 1.04-1.28; P=0.0075). CONCLUSIONS: The previously reported association of rs3846662 with LDL-C levels was replicated in the present Suita and Ehime samples. The LDL-associated SNP, rs3846662, appears to confer susceptibility to MI in Japanese.
机译：背景：3-羟基-3-甲基戊二酰辅酶A还原酶（HMGCR）与低密度脂蛋白-胆固醇（LDL-C）水平之间的单核苷酸多态性（SNP）之间的关联已在全基因组关联研究中得到了很好的复制（ GWAS）的白人群体。最近，有报道称HMGCR的内含子单核苷酸多态性（rs3846662）是功能性变异体，影响外显子13的可变剪接。该研究的目的是检查HMGCR的rs3846662与LDL-C水平之间的关联。日本。方法和结果：在吹田和爱媛县的rs3846662（P = 0.0002（n = 2,686）和P = 0.004（n = 2,110））的基因型之间观察到LDL-C水平的显着差异。 rs3846662的G等位基因与较高的LDL-C水平相关（β，3.56; P = 4.91x10（-5））。与该观察结果一致，在有心肌梗塞（MI）的受试者（n = 701）中，在rs3846662处的风险G等位基因比没有MI的受试者（n = 3,118）更普遍。在心梗病例和对照中分别为0.559和0.511（标称P = 0.0038）。根据年龄，性别，糖尿病，高血压以及饮酒和吸烟习惯调整的优势比为1.15（95％置信区间1.04-1.28; P = 0.0075）。结论：先前报道的rs3846662与LDL-C水平的关联在本发明的Suita和Ehime样品中重复。与LDL相关的SNP rs3846662在日语中似乎赋予MI易感性。

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