UCP1 基因座的单体型导致亚洲印第安人 2 型糖尿病的遗传风险增加（CURES-72）。

A haplotype at the UCP1 gene locus contributes to genetic risk for type 2 diabetes in Asian Indians (CURES-72).

机构信息

Madras Diabetes Research Foundation, Gopalapuram, Chennai-86, India.

出版信息

Metab Syndr Relat Disord. 2010 Feb;8(1):63-8. doi: 10.1089/met.2009.0039.

DOI:10.1089/met.2009.0039

PMID:19943796

Abstract

BACKGROUND

The gene encoding for uncoupling protein-1 (UCP1) is considered to be a candidate gene for type 2 diabetes because of its role in thermogenesis and energy expenditure. The objective of the study was to examine whether genetic variations in the UCP1 gene are associated with type 2 diabetes and its related traits in Asian Indians.

METHODS

The study subjects, 810 type 2 diabetic subjects and 990 normal glucose tolerant (NGT) subjects, were chosen from the Chennai Urban Rural Epidemiological Study (CURES), an ongoing population-based study in southern India. The polymorphisms were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Linkage disequilibrium (LD) was estimated from the estimates of haplotypic frequencies.

RESULTS

The three polymorphisms, namely -3826A-->G, an A-->C transition in the 5'-untranslated region (UTR) and Met229Leu, were not associated with type 2 diabetes. However, the frequency of the A-C-Met (-3826A-->G-5'UTR A-->C-Met229Leu) haplotype was significantly higher among the type 2 diabetic subjects (2.67%) compared with the NGT subjects (1.45%, P < 0.01). The odds ratio for type 2 diabetes for the individuals carrying the haplotype A-C-Met was 1.82 (95% confidence interval, 1.29-2.78, P = 0.009).

CONCLUSIONS

The haplotype, A-C-Met, in the UCP1 gene is significantly associated with the increased genetic risk for developing type 2 diabetes in Asian Indians.

摘要

背景

解偶联蛋白 1（UCP1）基因编码被认为是 2 型糖尿病的候选基因，因为它在产热和能量消耗中起作用。本研究的目的是检验 UCP1 基因中的遗传变异是否与亚洲印第安人 2 型糖尿病及其相关特征有关。

方法

研究对象为来自印度南部正在进行的基于人群的 Chennai Urban Rural Epidemiological Study（CURES）中的 810 例 2 型糖尿病患者和 990 例正常糖耐量（NGT）个体。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对多态性进行基因分型。通过估计单倍型频率来估计连锁不平衡（LD）。

结果

三个多态性，即-3826A-->G、5'-非翻译区（UTR）中的 A-->C 转换和 Met229Leu，与 2 型糖尿病无关。然而，2 型糖尿病患者中 A-C-Met（-3826A-->G-5'UTR A-->C-Met229Leu）单倍型的频率明显高于 NGT 个体（2.67%比 1.45%，P<0.01）。携带该单倍型的个体发生 2 型糖尿病的比值比为 1.82（95%置信区间，1.29-2.78，P=0.009）。