IL12B基因多态性与宁夏人群强直性脊柱炎患病风险的新关联

摘要

Objective To investigate the correlation of IL12B gene polymorphism with the risk of ankylosing spondylitis(AS) in Ningxia population.Methods Using the case-control design method,297 AS patients and 370 healthy subjects were collected.The genotype of 4 SNPs on IL1 2B gene were detected with the polymerase chain reaction-high resolution melting curve(PCR-HRM) and PCR-restricted fragment length polymorphism(RFLP) combined with gene sequencing,in order to analyze the genotype frequencies,the haplotype and the cumulative effect of risk genotype.Results Significant differences were found in the distribution of the genotype AA of rs3213094(P=0.032,OR=1.534) and the haplotype AAC that contained the allele A of rs3213094(P=0.018,OR=1.352) between the AS and control groups.Cumulative effect may existed among the risk genotypes of the 4 SNPs on IL12B gene.There were more subjects that contain 3 or 4 risk genotypes in the AS group than that in the control group.And the OR value increased from 1.731 to 4.957.Conclusion A novel SNP rs3213094 on IL12B gene may be associated with the risk of AS in Ningxia population.%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.