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首页> 美国卫生研究院文献>International Journal of Molecular Sciences >Association between PDCD1 Gene Polymorphisms and Risk of Systemic Lupus Erythematosus in Three Main Ethnic Groups of the Malaysian Population
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Association between PDCD1 Gene Polymorphisms and Risk of Systemic Lupus Erythematosus in Three Main Ethnic Groups of the Malaysian Population

机译：马来西亚人口三个主要族裔中PDCD1基因多态性与系统性红斑狼疮风险的关联

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The programmed cell death 1 (PDCD1) gene encodes for the PD-1 (programmed death 1) molecule, which negatively regulates self-reactive T- and B-cells in the maintenance of peripheral tolerance. A previous report had shown the development of lupus-like phenotypes in PD-1-deficient C57BL/6 mice, was suggestive to the role of PDCD1 in predisposing to systemic lupus erythematosus (SLE). Hence, we aimed to investigate the association between PDCD1 and SLE susceptibility in the Malaysian population. A TaqMan-based real-time PCR was employed to screen for PD1.1, PD1.3, PD1.5 and PD1.6 in both SLE and healthy control groups of 200 samples each. The observed frequency for PD1.5C/C genotype was significantly higher in Indian SLE patients and Malay controls (p < 0.01). On the other hand, the PD1.5C/T genotype might predispose the Malays to SLE, but confer a protective effect among the Indians (p < 0.01). The PD1.1, PD1.3 and PD1.6 were, however, not correlated to genetic predisposition of SLE in our Malaysian population. In conclusion, PD1.5 variant was significantly associated to SLE susceptibility in our Malaysian cohort. Our failure in replicating the association between other investigated PDCD1 variants and risk of getting SLE might due to ethnic and geographic variations in the distribution of these genetic variants.
机译：程序性细胞死亡1（PDCD1）基因编码PD-1（程序性死亡1）分子，该分子在维持外周耐受性方面负调节自我反应性T细胞和B细胞。先前的报道表明在PD-1缺陷型C57BL / 6小鼠中出现了狼疮样表型，提示PDCD1在易患系统性红斑狼疮（SLE）中的作用。因此，我们旨在调查PDCD1与马来西亚人群中SLE易感性之间的关联。使用基于TaqMan的实时PCR筛选SLE和健康对照组（每组200个样品）中的PD1.1，PD1.3，PD1.5和PD1.6。在印度SLE患者和马来对照组中，观察到的PD1.5C / C基因型频率显着更高（p <0.01）。另一方面，PD1.5C / T基因型可能使马来人易患SLE，但在印第安人中具有保护作用（p <0.01）。然而，PD1.1，PD1.3和PD1.6与我们马来西亚人口中SLE的遗传易感性无关。总之，在我们的马来西亚队列中，PD1.5变异与SLE易感性显着相关。我们未能在其他已调查的PDCD1变异之间复制关联以及获得SLE的风险可能归因于这些遗传变异的分布中的种族和地理差异。

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