Lack of an association of PD-1 and its ligand genes with Behcet's disease in a Chinese Han population.
Lack of an association of PD-1 and its ligand genes with Behcet's disease in a Chinese Han population.
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中国汉族人群中缺乏 PD-1 及其配体基因与白塞氏病的关联
DOI：
10.1371/journal.pone.0025345
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发表时间：
2011
期刊：
影响因子：
3.7
通讯作者：
Yang P
中科院分区：
文献类型：
--
作者：
Meng Q;Guo H;Hou S;Jiang Z;Kijlstra A;Yang P
背景白塞病是一种慢性、多系统的自身免疫性疾病。程序性细胞死亡1（Programmed cell death 1，PD-1）基因是一种非人类白细胞抗原基因。它已被证明与几种自身免疫性疾病有关。然而，只有少数研究已经解决了PD-1，PD-L1和PD-L2的配体基因与自身免疫性疾病的关联。本研究的目的是分析PD-1及其配体基因与中国汉族人群白塞病的潜在关联。方法学/主要发现使用聚合酶链反应-限制性片段长度多态性分析法对405名白塞病患者和414名年龄、性别、种族匹配的健康对照者进行PD-1的rs 2227981和rs 10204525、PD-L1的rs 1970000和PD-L2的rs7854303四种单核苷酸多态性（SNP）基因分型。结果显示，PD-1基因rs 2227981和rs 10204525的基因型和等位基因频率在白塞病组和对照组之间无显著性差异。PD-L1 rs 1970000与健康对照相比发现了类似的结果。在患者和对照组中仅鉴定了PD-L2 rs7854303的C等位基因和CC基因型。基于性别和临床结果的分层分析未显示PD-1或其配体多态性与白塞氏病之间存在任何关联。目前研究的SNPs，PD-1 rs 2227981和rs 10204525，PD-L1 rs 1970000和PD-L2 rs7854303，与中国汉族人群中白塞病的易感性无关。需要更多的研究来证实这些发现在其他种族背景的白塞病患者。
Background Behcet's disease is a chronic, multi-systemic autoimmune disease. Programmed cell death 1 (PD-1) gene is one of non-human leucocyte antigen genes. It has been demonstrated to be associated with several autoimmune diseases. However, only a few studies have addressed the association of ligand genes of PD-1, PD-L1 and PD-L2 with autoimmune disease. The purpose of this study was to analyze the potential association of the PD-1 and its ligand genes with Behcet's disease in a Chinese Han population. Methodology/Principal Findings Four single-nucleotide polymorphism (SNPs) rs2227981 and rs10204525 of PD-1, rs1970000 of PD-L1 and rs7854303 of PD-L2 were genotyped in 405 Behcet's patients and 414 age-, sex-, ethnic-matched healthy controls using polymerase chain reaction-restriction fragment length polymorphism assay. The results revealed that there were no significant differences in the genotype and allele frequencies of PD-1 rs2227981 and rs10204525 between the Behcet's patients and controls. A similar result was found for PD-L1 rs1970000 versus healthy controls. Only the C allele and the CC genotype of PD-L2 rs7854303 were identified in patients and controls. Stratification analysis based on gender and clinical findings did not show any associations between PD-1 or its ligand polymorphisms and Behcet's disease. Conclusions/Significance None of the currently studied SNPs, PD-1 rs2227981 and rs10204525, PD-L1 rs1970000 and PD-L2 rs7854303, are associated with the susceptibility to Behcet's disease in a Chinese Han population. More studies are needed to confirm these findings in Behcet's patients with other ethnic backgrounds.
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