T 细胞免疫球蛋白和粘蛋白结构域分子 3 的多态性与中国汉族人群自身免疫性格雷夫斯病无关。

Polymorphisms of the T-cell immunoglobulin and mucin domain molecule-3 are not associated with autoimmune Graves' disease in a Chinese Han Population.

机构信息

Clinical Laboratory Medicine Department, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

出版信息

Clin Biochem. 2012 Dec;45(18):1624-8. doi: 10.1016/j.clinbiochem.2012.08.004. Epub 2012 Aug 10.

DOI:10.1016/j.clinbiochem.2012.08.004

PMID:22968087

Abstract

OBJECTIVES

This study aimed to investigate the association between polymorphisms of T-cell immunoglobulin and mucin domain molecule-3 (TIM-3) and Graves' disease (GD) in a Chinese population.

DESIGN AND METHODS

Genomic DNA was extracted from peripheral blood cells of the 182 GD patients and 150 control subjects. The TIM-3 gene polymorphic sites were genotyped. We also analyzed the relationships between the genotypes of each SNP and serum specific clinical variables. To detect whether the variants were associated with the TIM-3 expression, we further studied 40 patients by using the method of real-time quantitative reverse-transcription polymerase chain reaction (real-time RT-PCR).

RESULTS

The genotype and allele frequency of each polymorphic site were not significantly different between GD and control individuals. Furthermore, it also showed no relationship between the variants and TIM-3 mRNA expression.

CONCLUSIONS

Our results demonstrated that the polymorphisms of TIM-3 gene may not contribute to GD susceptibility in the Chinese Han population.

摘要

目的

本研究旨在探讨中国人群中 T 细胞免疫球蛋白和粘蛋白结构域分子-3（TIM-3）基因多态性与格雷夫斯病（GD）之间的关系。

设计与方法

从 182 例 GD 患者和 150 例对照者的外周血细胞中提取基因组 DNA。对 TIM-3 基因多态性位点进行基因分型。我们还分析了每个 SNP 基因型与血清特定临床变量之间的关系。为了检测这些变异是否与 TIM-3 表达有关，我们进一步用实时定量逆转录聚合酶链反应（real-time RT-PCR）方法研究了 40 例患者。