title: CTLA4 and CD86 gene polymorphisms and susceptibility to chronic obstructive pulmonary disease.
abstract: 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 < 0.0001; +1057GA: 58.6% vs 54.2%, p = 0.002; +1057AA: 30.1% vs 25.8%, p = 0.002). However, we failed to find any association between the four SNPs and COPD when cases were classified by smoking status or clinical stages (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.
authors: Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Sichuan, China.
authors: Yun
authors: Y
authors: Liu
authors: Wei-Bo
authors: WB
authors: Liang
authors: Lin-Bo
authors: LB
authors: Gao
authors: Xin-Min
authors: XM
authors: Pan
authors: Tian-Yi
authors: TY
authors: Chen
authors: Yan-Yun
authors: YY
authors: Wang
authors: Hui
authors: H
authors: Xue
authors: Lu-shun
authors: LS
authors: Zhang
authors: Lin
authors: L
authors: Zhang
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D015703:Antigens, CD / Q000235:genetics*; D051940:B7-2 Antigen / Q000235:genetics*; D060908:CTLA-4 Antigen; D002681:China; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008213:Lymphocyte Activation / Q000235:genetics; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D029424:Pulmonary Disease, Chronic Obstructive / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology* / Q000503:physiopathology; D012307:Risk Factors; D013601:T-Lymphocytes / Q000276:immunology / Q000378:metabolism* / Q000473:pathology
chemical_list: D015703:Antigens, CD; D051940:B7-2 Antigen; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human