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中国人群中RETN、NAMPT和ADIPOQ基因的遗传变异与血糖、代谢特征及糖尿病风险的关联

Association of genetic variants in RETN, NAMPT and ADIPOQ gene with glycemic, metabolic traits and diabetes risk in a Chinese population.

作者信息

Zhou Qiang, Chen Bo, Ji Tianxing, Luo Miaoshan, Luo Jiandong

机构信息

Clinical Laboratory, The Second Affiliated Hospital of Guangzhou Medical University, No. 250 Changgang East Road, Haizhu District, Guangzhou 510260, China.

Department of Pharmacology, Guangzhou Medical University, Xinzao, Panyu District, Guangzhou 511436, China.

出版信息

Gene. 2018 Feb 5;642:439-446. doi: 10.1016/j.gene.2017.10.084. Epub 2017 Oct 31.

Abstract

Abnormal serum levels of adipokine have been established to be a strong predictor of developing several human diseases including type 2 diabetes mellitus (T2DM). Association studies have reported several genetic variants in genes coding adipokines with contributions to T2DM susceptibility as well as some glycemic and metabolic traits, of which the single nucleotide polymorphisms (SNPs) of RETN, NAMPT, and ADIPOQ gene were well documented. However, little is known about contributions of these SNPs to above phenotypes in Chinese. In the current study, with availably quantitative glycemic and metabolic data from a total of 185 T2DM patients and 191 healthy controls, we tested associations between four SNPs of RETN, NAMPT, ADIPOQ gene and 13 glycemic and metabolic traits. The results showed that the rs1862513 and rs34861192 of RETN gene were functional and negatively correlated with the levels of serum creatinine and cholesterol, respectively. The rs16861194 of ADIPOQ gene was positively correlated with the aspartate aminotransferase (AST) and AST/alanine aminotransferase level. Moreover, the rs34861192 and rs13237989 of NAMPT gene synergistically affected the levels of insulin and glycemic index. However, due to the limited sample size, only the rs16861194 exerted a significant increased risk on T2DM. These results underscore the contributions of SNPs in RETN, NAMPT, ADIPOQ gene to glycemic and metabolic traits as well as T2DM susceptibility in Chinese.

摘要

血清脂肪因子水平异常已被证实是包括2型糖尿病(T2DM)在内的多种人类疾病发生的有力预测指标。关联研究报告了编码脂肪因子的基因中的几个遗传变异对T2DM易感性以及一些血糖和代谢特征有影响,其中RETN、NAMPT和ADIPOQ基因的单核苷酸多态性(SNP)有充分记录。然而,这些SNP对中国人群上述表型的贡献知之甚少。在本研究中,利用来自185例T2DM患者和191例健康对照的可用定量血糖和代谢数据,我们测试了RETN、NAMPT、ADIPOQ基因的四个SNP与13种血糖和代谢特征之间的关联。结果表明,RETN基因的rs1862513和rs34861192具有功能,分别与血清肌酐和胆固醇水平呈负相关。ADIPOQ基因的rs16861194与天冬氨酸转氨酶(AST)和AST/丙氨酸转氨酶水平呈正相关。此外,NAMPT基因的rs34861192和rs13237989协同影响胰岛素水平和血糖指数。然而,由于样本量有限,只有rs16861194对T2DM有显著增加的风险。这些结果强调了RETN、NAMPT、ADIPOQ基因中的SNP对中国人群血糖和代谢特征以及T2DM易感性的贡献。

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