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LXRα 和 LXRβ 基因多态性与代谢综合征患病率之间缺乏关联:伊朗人群的病例对照研究。

Lack of association between LXRα and LXRβ gene polymorphisms and prevalence of metabolic syndrome: a case-control study of an Iranian population.

机构信息

Gastroenterology and Liver Diseases Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Basic Science and Molecular Epidemiology of Gastrointestinal Disorders Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

出版信息

Gene. 2013 Dec 15;532(2):288-93. doi: 10.1016/j.gene.2013.09.107. Epub 2013 Oct 4.

Abstract

The metabolic syndrome (MetS) is considered to be a major risk factor for type 2 diabetes mellitus and cardiovascular diseases. It is characterized by central adiposity, high blood pressure, glucose intolerance and abnormalities of lipoprotein metabolism. The cause of MetS is likely to be due to a complex interaction between genetic and environmental factors. Liver X receptors alpha (NR1H3) and beta (NR1H2) play a key role in lipid and carbohydrate metabolism. The aim of this study was to investigate the contribution of genetic polymorphisms in the LXRs to risk of MetS and related traits. Two common SNPs in NR1H3 (rs11039155 and rs2279238) and in NR1H2 (rs17373080 and rs2695121) were genotyped using TaqMan assays in MetS patients (n=265) and controls (n=219). Logistic regression analyses were performed to calculate the odds ratios (ORs) as a measure of association of genotypes with the presence of MetS and related phenotypes. Although The NR1H2 polymorphism rs2695121 was nominally associated with MetS but correction for multiple-testing and adjustment for age, sex and number of MetS criteria, failed to identify any significant interactions associated with prevalence of MetS. However in the haplotype analysis, a LXRα haplotype AC, was more common in controls and was associated with a significant protective effect for MetS (OR [95% CI]=0.25 [0.07-0.88], p=0.031). In conclusion, this study suggests that the above-named variants in LXRα and LXRβ genes are not potential contributors to the risk of MetS and related traits in an Iranian population.

摘要

代谢综合征(MetS)被认为是 2 型糖尿病和心血管疾病的主要危险因素。其特征为中心性肥胖、高血压、葡萄糖耐量异常和脂蛋白代谢异常。MetS 的病因可能是遗传和环境因素之间的复杂相互作用。肝 X 受体α(NR1H3)和β(NR1H2)在脂质和碳水化合物代谢中发挥关键作用。本研究旨在探讨 LXR 基因的遗传多态性对 MetS 及相关表型的风险贡献。使用 TaqMan 法检测了 NR1H3 中的两个常见 SNP(rs11039155 和 rs2279238)和 NR1H2 中的四个常见 SNP(rs17373080、rs2695121、rs11136279 和 rs11136280)在 MetS 患者(n=265)和对照组(n=219)中的基因型。采用 logistic 回归分析计算基因型与 MetS 及相关表型存在的比值比(OR)作为关联度的衡量标准。虽然 NR1H2 多态性 rs2695121 与 MetS 呈显著关联,但经多次检验校正和年龄、性别及 MetS 标准数调整后,未发现与 MetS 患病率相关的显著交互作用。然而,在 haplotype 分析中,LXRα 单体型 AC 在对照组中更为常见,与 MetS 有显著的保护作用相关(OR[95%CI]=0.25[0.07-0.88],p=0.031)。综上所述,本研究表明,伊朗人群中 LXRα 和 LXRβ 基因的上述变异不是 MetS 及相关表型的潜在危险因素。

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