Ningxia University, Yinchuan, Ningxia, China.
Int J Immunogenet. 2011 Dec;38(6):513-8. doi: 10.1111/j.1744-313X.2011.01046.x. Epub 2011 Oct 12.
The T-cell immunoglobulin and mucin domain 3 (TIM-3) has been shown to be associated with susceptibility to rheumatoid arthritis (RA). In this study, we investigated the association of four single-nucleotide polymorphisms (SNPs) of the TIM-3 gene with RA susceptibility in Chinese Hui and Han groups. Using restriction fragment length or sequence-specific primer-polymerase chain reaction (PCR), patients with RA and nonarthritis control individuals from these two ethnicities were analysed for SNPs of -1541 C>T, -882 T>C, -574 T>G and +4259 G>T, in the TIM-3 gene. Our results demonstrated that the polymorphisms of +4259 G>T SNP of TIM-3 gene was associated with the RA susceptibility in both the Hui (P < 0.01) and Han populations (P < 0.05). However, the -1541 C>T and -574 T>G SNPs were distinctly associated with RA for the Hui and Han populations, respectively. In addition, haplotype analysis found no statistically differences in the distribution of nine detected haplotype frequency between patients with RA and controls in this study (P > 0.05). These findings suggest that polymorphism of +4259 G>T in TIM-3 gene may be one of the most important genetic factors associated with the RA susceptibility among different populations, and genetic variations of TIM-3 gene contribute to RA susceptibility among different populations.
T 细胞免疫球蛋白和粘蛋白结构域 3（TIM-3）已被证明与类风湿关节炎（RA）易感性相关。在这项研究中，我们调查了 TIM-3 基因的四个单核苷酸多态性（SNP）与中国回族和汉族人群 RA 易感性的关系。使用限制性片段长度或序列特异性引物聚合酶链反应（PCR），分析了来自这两个民族的 RA 患者和非关节炎对照个体的 TIM-3 基因的-1541 C>T、-882 T>C、-574 T>G 和+4259 G>T 四个 SNP。我们的结果表明，TIM-3 基因的+4259 G>T 多态性与回族（P < 0.01）和汉族人群（P < 0.05）的 RA 易感性相关。然而，-1541 C>T 和-574 T>G 多态性分别与回族和汉族人群的 RA 明显相关。此外，单体型分析发现，在这项研究中，RA 患者和对照组之间九个检测到的单体型频率的分布没有统计学差异（P > 0.05）。这些发现表明，TIM-3 基因的+4259 G>T 多态性可能是与不同人群 RA 易感性相关的最重要遗传因素之一，TIM-3 基因的遗传变异可能导致不同人群的 RA 易感性。
