TNF-α基因多态性与湖南汉族人群类风湿关节炎风险的关系（英文）

Association of TNF-α gene polymorphisms with the risk of rheumatoid arthritis in Han Chinese population from Hunan

目的:研究TNF-α-308基因多态性对湖南汉族人群类风湿关节炎(RA)风险的影响。方法:标本来源于112例湖南汉族RA患者以及129例健康献血者。TNF-α-308(rs1800629)基因多态性采用限制性片段长度多态性(PCR-RFLP)法分析。血清TNF-α水平检测采用ELISA方法。结果:湖南汉族人群中RA患者TNF-α-308 A等位基因携带率为3.6%,健康对照为10.5%(P=0.004);男性RA人群TNF-α-308 A等位基因携带率显著低于男性健康对照(2.8%vs 15.6%,OR=0.179,P=0.007)。无论男女,同时携带HLA-DRB1*04及TNF-α-308 GG基因型人群RA风险显著增高(OR=6.107),其中女性RA患者起病更早、血清TNF-α水平更高。结论:湖南汉族人群中,TNF-α-308 G等位基因与RA易感性增高相关,尤其是女性人群。TNF-α-308 A等位基因可减少男性人群RA风险。

Objective:To investigate the association of TNF-α-308 gene polymorphism with the risk of RA in Hunan's Han Chinese population.Methods:A total of 112 patients with RA from Han Chinese population in Hunan were recruited,along with 129 healthy controls.TNF-α-308(rs1800629) gene polymorphisms were analyzed by PCR-RFLP.Serum levels of TNF-a were detected by ELISA.Results:TNF-α-308 A allele carrier was 3.6%in RA patients and 10.5%in controls(P=0.004);male RA patients displayed noticeably lower rates of TNF-α-308 A allele than that in the male controls(2.8%vs 15.6%,OR=0.179,P=0.007).Patients containing both HLA-DRB1*04 and TNF-α-308 GG genotype showed a significant increase in risk for RA(OR=6.107),no matter they were male(OR=7.273) or female(OR=5.029).Female RA patients with both HLA-DRB1*04 and TNF-α-308 GG showed earlier disease onset and higher TNF-a level.Conclusion:In Han Chinese population from Hunan,susceptibility of RA was increased in patients with TNF-α-308 G allele,especially in the female carrier of genotypes;TNF-α-308 A allele may play a positive role in reduction of RA risk in males.