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目的探讨IL12B基因多态性与宁夏人群强直性脊柱炎(AS)患病风险的关系。方法选用病例-对照方法,以297例AS患者以及性别、地域匹配的370例健康者为研究对象,采用PCR-HRM技术和PCR-RFLP法结合测序技术检测IL12B基因4个SNP的基因型,分析4个SNP基因型频率、单体型以及危险基因型累积效应。结果在AS患者中,rs3213094的基因型AA(P=0.032,OR=1.534)以及含有rs3213094等位基因A的单体型AAC(P=0.018,OR=1.352)显著增多;4个SNPs的危险基因型间存在着一定的累积效应,在病例组中同时存在3个或4个危险基因型的个体显著增加(P<0.05),并且OR值逐渐增大(1.731→4.957)。结论 IL12B基因SNP rs3213094可能是与宁夏人群AS患病风险相关联的新位点。
Objective To investigate the relationship between IL12B gene polymorphism and the prevalence of ankylosing spondylitis (AS) in Ningxia. Methods A case-control study was conducted in 297 AS patients and 370 matched healthy and sex-matched subjects. The genotypes of four SNPs in IL12B gene were detected by PCR-HRM and PCR-RFLP combined with sequencing. Four SNP genotype frequencies, haplotypes and cumulative effects of risk genotypes. Results The genotype AA (P = 0.032, OR = 1.534) of rs3213094 and the haplotype AAC (rs = 0.018, OR = 1.352) with rs3213094 allele A were significantly increased in AS patients. The risk genes of four SNPs There was a certain cumulative effect between two groups (P <0.05). The OR of 3 or 4 risk genotypes in the case group increased significantly (P <0.05), and the OR value gradually increased (1.731 → 4.957). Conclusion IL12B gene SNP rs3213094 may be a new locus associated with the risk of AS in Ningxia population.