CTLA4 and CD86 gene polymorphisms and susceptibility to chronic obstructive pulmonary disease
CTLA4 and CD86 gene polymorphisms and susceptibility to chronic obstructive pulmonary disease
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CTLA4、CD86基因多态性与慢性阻塞性肺疾病易感性
DOI：
10.1016/j.humimm.2010.08.007
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发表时间：
2010-11-01
期刊：
影响因子：
2.7
通讯作者：
Zhang, Lin
中科院分区：
文献类型：
--
作者：
Liu, Yun;Liang, Wei-Bo;Zhang, Lin
慢性阻塞性肺疾病（COPD）可能与慢性炎症和免疫介导的疾病有关，其发病机制涉及T细胞活化和增殖。细胞毒性T淋巴细胞相关蛋白4（CTLA-4）和共刺激分子（CD 80/CD 86）基因是免疫应答中T细胞活化的重要介质。本研究旨在探讨CD 86基因+2379G/C（rs 17281995）和+1057G/A（rs 1129055）以及CTLA-4基因-318C/T（rs 5742909）和+49A/G（rs 231775）单核苷酸多态性（SNPs）与中国人群COPD的相关性。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术对396例COPD患者和400例对照者进行了上述4种多态性的检测。CTLA-4基因-318C/T位点T等位基因和CD 86基因+1057G/A位点A等位基因的频率与COPD的发生有显著相关性（T等位基因：p < 0.0001; A等位基因：p = 0.009）。基因型频率的比较显示，-318 CT、+1057 GA和+1057 AA基因型在COPD组中的代表性较高（-318 CT：50.8% vs 28.5%，p 0.05）。CTLA-4（-318C/T）和CD 86（+1057G/A）基因多态性可能是中国人群COPD发病的重要遗传因素。(C)2010年美国组织相容性和免疫遗传学学会。爱思唯尔公司出版All rights reserved.
Chronic obstructive pulmonary disease (COPD) may be related to chronic inflammation and immune-mediated conditions, and its pathogenesis involves T-cell activation and proliferation. Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) and costimulatory molecules (CD80/CD86) genes are important mediators of T-cell activation in the immune response. The aim of this study was to investigate whether +2379G/C (rs17281995) and +1057G/A (rs1129055) in CD86 and -318C/T (rs5742909) and +49A/G (rs231775) in CTLA-4 genes single nucleotide polymorphisms (SNPs) are associated with COPD in a Chinese population. The four polymorphisms were identified in 396 COPD patients and 400 controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The frequency of the T allele of the -318C/T in CTLA-4 and the A allele of the +1057G/A in CD86 polymorphisms showed significant association with COPD when compared with controls (T allele: p < 0.0001; A allele: p = 0.009). Comparison of genotype frequencies showed that -318CT, +1057GA, and +1057AA genotype was overrepresented in the COPD group, respectively (-318CT: 50.8% vs 28.5%, p 0.05). The results indicate that the polymorphisms of CTLA-4 (-318C/T) and CD86 (+1057G/A) may be important genetic factor associated with risk or protection for COPD in Chinese population. (C) 2010 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.