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目的探讨IL-1β和IL-1Ra基因多态性与类风湿关节炎(rheumatoid arthritis,RA)易感性及其血清学指标的关系。方法应用高分辨率熔解(high resolution melting,HRM)技术对452例RA患者和360例对照进行IL-1β和IL-1Ra基因多态性的病例-对照研究,并分析IL-1β和IL-1Ra基因多态性与血清学指标的相关性。等位基因频率比较采用SPSS软件,单倍型构建采用在线SHEsis软件。结果成功建立了IL-1B-511、-31、+3954和IL-1RN(rs4251961)4个位点的PCR-HRM检测方法。结果显示在女性中,IL-1B+3954位点等位基因频率在病例组和对照组之间存在有统计学差异(χ2=5.0,P=0.03),IL-1B-31位点等位基因频率和单倍型IL-1B-511*T/IL-1B-31*C/IL-1B+3954*C/IL-1RN*T(TCCT)在抗-MCV阳性组和阴性组之间存在统计学差异(χ2=5.0,P=0.02;χ2=5.3,P=0.02),单倍型IL-1B-511*T/IL-1B-31*C/IL-1B+3954*C/IL-1RN*C(TCCC)在RF、抗CCP和抗MCV 3个指标均为阳性和3指标非全阳性的2组之间存在统计学差异(χ2=5.1,P=0.02)。结论 PCR-HRM技术是一种值得推广的常规化基因分型新方法。IL-1B+3954*C与女性RA易感性相关,IL-1B-31*C和单倍型TCCT与女性抗MCV阳性相关,单倍型TCCC与女性血清学指标全阳性相关。
Objective To investigate the relationship between IL-1β and IL-1Ra gene polymorphisms and the susceptibility to rheumatoid arthritis (RA) and their serological markers. Methods High-resolution melting (HRM) technique was used in a case-control study of IL-1β and IL-1Ra polymorphisms in 452 patients with RA and 360 controls. IL-1β and IL-1Ra Relationship between gene polymorphism and serological markers. Allele frequency comparison using SPSS software, haplotype construction using online SHEsis software. Results The PCR-HRM method was successfully established for the four loci of IL-1B-511, -31, + 3954 and IL-1RN (rs4251961). The frequency of IL-1B + 3954 loci in women was significantly different between the case group and the control group (χ 2 = 5.0, P = 0.03). The IL-1B-31 locus allele Frequency and haplotype IL-1B-511 * T / IL-1B-31 * C / IL-1B + 3954 * C / IL- 1RN * T (TCCT) There was a statistical difference between anti-MCV positive and negative groups The haplotype IL-1B-511 * T / IL-1B-31 * C / IL-1B + 3954 * C / IL-1RN (χ2 = 5.0, P = 0.02; χ2 = 5.3, P = 0.02) * C (TCCC) There was a statistically significant difference between the two groups of RF, anti-CCP and anti-MCV 3 markers and non-full 3 markers (χ2 = 5.1, P = 0.02). Conclusion PCR-HRM is a new and routine method of genotyping. IL-1B + 3954 * C is associated with RA susceptibility in women, and IL-1B-31 * C and haplotype TCCT are associated with positive anti-MCV in women. Haplotype TCCC is associated with a completely positive female serology.