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脂联素基因功能性多态性(-11377C/G 和 +45T/G)与非酒精性脂肪性肝病的关联。

Association of adiponectin gene functional polymorphisms (-11377C/G and +45T/G) with nonalcoholic fatty liver disease.

机构信息

Department of Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India.

出版信息

Gene. 2012 Mar 15;496(1):63-7. doi: 10.1016/j.gene.2011.12.023. Epub 2011 Dec 29.

DOI:10.1016/j.gene.2011.12.023
PMID:22269154
Abstract

Adiponectin levels are reduced in NAFLD patients and genetic variants of adiponectin have been frequently associated with type 2 diabetes and insulin resistance. To determine the genotypic frequencies of adiponectin functional polymorphisms (-11377C/G and +45T/G) and their subsequent effect on disease progression and plasma adiponectin levels in the patients with NAFLD. A total of 137 NAFLD patients and 250 matched controls were enrolled in the study. DNA sequencing and genotyping were performed to identify the genetic variants. The plasma adiponectin levels were assessed by ELISA. Homozygous mutant genotype of adiponectin SNPs, -11377C/G and +45T/G, were significantly more prevalent in NAFLD patients than controls (Bonferroni corrected p=0.014 and 0.018, respectively). Plasma adiponectin levels were significantly lower in the NAFLD patients as compared to controls. Moreover, presence of 'G' allele at position -11377C/G and +45T/G was found to be associated with necroinflammatory grade and reduced adiponectin levels, (p values 0.02 and 0.01) respectively. -11377G and +45G alleles are associated with severity of liver disease and hypoadiponectemia, in the patients with NAFLD, respectively.

摘要

脂联素水平在非酒精性脂肪性肝病(NAFLD)患者中降低,脂联素的遗传变异与 2 型糖尿病和胰岛素抵抗频繁相关。为了确定脂联素功能多态性(-11377C/G 和 +45T/G)的基因型频率及其随后对 NAFLD 患者疾病进展和血浆脂联素水平的影响。共纳入 137 例 NAFLD 患者和 250 例匹配对照进行研究。进行 DNA 测序和基因分型以鉴定遗传变异。通过 ELISA 评估血浆脂联素水平。脂联素 SNP-11377C/G 和 +45T/G 的纯合突变基因型在 NAFLD 患者中明显比对照组更为常见(经 Bonferroni 校正后 p 值分别为 0.014 和 0.018)。与对照组相比,NAFLD 患者的血浆脂联素水平明显较低。此外,-11377C/G 和 +45T/G 位置的'G'等位基因的存在与坏死性炎症分级和降低的脂联素水平相关(p 值分别为 0.02 和 0.01)。-11377G 和 +45G 等位基因分别与 NAFLD 患者的肝病严重程度和低脂联素血症相关。

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