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  

Novel association between IL12B gene polymorphism and risk of ankylosing spondylitis in Ningxia population

作　　者：周林[1] 张建佚[2] 刘英 朱小泉[4] 张毓洪[5] 杨芝红[6] 杨宝珍[6] 霍正浩[7] 杨泽[4] 

机构地区：[1]广西壮族自治区妇幼保健院遗传代谢中心实验室,广西南宁530003 [2]北京回龙观医院内科,北京102208 [3]上海市浦东医院老年科,上海201300 [4]卫生部北京医院,北京100730 [5]宁夏医科大学公共卫生学院,宁夏银川750004 [6]宁夏医科大学附属医院检验科,宁夏银川750004 [7]宁夏医科大学医学遗传与细胞生物学系,宁夏银川750004

出　　处：《国际检验医学杂志》2013年第11期1372-1375,共4页International Journal of Laboratory Medicine

基　　金：国家自然科学基金资助项目(30972709)

摘　　要：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 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 IL12B 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.

关 键 词：基因多态性 IL12B 强直性脊柱炎 宁夏 

分 类 号：R593.23[医药卫生—内科学]