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目的探讨TNF-α及其受体基因多态性与中国西北地区汉族人群类风湿性关节炎(rheumatoidarthritis,RA)易感性及其血清学指标的相关性。方法利用高分辨率熔解曲线(high resolution melting,HRM)技术对452例RA患者和匹配的356例正常对照人群的TNF-α及其受体6个SNP位点(TNFA-857C>T、TNFA-863C>A、TNFA-308G>A、TNFA-238G>A、TNFR1-383A>C、TNFR2-exonT>G)的基因多态性进行病例-对照研究。此外,采用临床常规方法测定RA患者的抗环瓜氨酸肽抗体(anti-CCP)和类风湿因子(RF),分析其与6个SNP位点的相关性。结果 TNFA-308GA和-863CA基因型在RA病例组和正常对照组中频率分布差异有统计学意义(P=0.001,P=0.002),TNFA-238GA、TNFA-238AA及TNFR2-exonTG、TNFR2-exonGG基因型在两组间频率分布差异无统计学意义(P=0.701,P=0.999,P=0.825,P=0.330)。由TNFA 3个位点构成的单倍型-238G/-308A/-863C(GAC)、-238G/-308G/-863A(GGA)和-238G/-308G/-863C(GGC)在两组间的频率分布差异均有统计学意义(P=0.016,P=0.033,P=0.023)。TNF-α及其受体基因多态性与RA血清学指标(RF、anti-CCP)未见明显相关性。结论 TNFA-308GA和TNFA-863CA与中国西北地区汉族人群RA易感性相关;TNFA单倍型GAC、GGA和GGC与RA易感性相关;TNF-α及其受体基因多态性与RA患者血清学指标未见明显相关性。
Objective To investigate the association between TNF-α and its receptor gene polymorphisms and susceptibility to rheumatoid arthritis (RA) and its serological markers in Han population of northwestern China. Methods High-resolution melting (HRM) technique was used to detect TNF-α and its 6 SNPs (TNFA-857C> T, TNFA-857C) in 452 patients with RA and matched 356 healthy controls 863C> A, TNFA-308G> A, TNFA-238G> A, TNFR1-383A> C, TNFR2-exonT> G). In addition, anti-CCP and rheumatoid factor (RF) were measured in RA patients using routine clinical methods and their association with 6 SNP loci was analyzed. Results The frequency distribution of TNFA-308GA and -863CA genotypes in RA patients and normal controls was significantly different (P = 0.001, P = 0.002), TNFA-238GA, TNFA-238AA and TNFR2-exonTG, TNFR2-exonGG There was no significant difference in genotype frequency distribution between the two groups (P = 0.701, P = 0.999, P = 0.825, P = 0.330). The haplotypes-238G / -308A / -863C (GAC), -238G / -308G / -863A (GGA) and -238G / -308G / -863C (GGC) The frequency distribution differences were statistically significant (P = 0.016, P = 0.033, P = 0.023). TNF-α and its receptor gene polymorphisms and RA serological indicators (RF, anti-CCP) no significant correlation. Conclusion TNFA-308GA and TNFA-863CA are associated with RA susceptibility in Han population of Northwest China; TNFA haplotype GAC, GGA and GGC are associated with RA susceptibility; TNF-α and its receptor gene polymorphism are associated with RA serology No significant correlation between indicators.