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

To investigate the association of TNF-α-308 gene polymorphism with the risk of RA in Hunan's Han Chinese population. 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-α were detected by ELISA. 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-α level. 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.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。.