IL-23R基因多态性与吉林人群强直性脊柱炎易感性的关联研究  

Correlation between IL-23R gene polymorphisms and susceptibility of ankylosing spondylitis

作　　者：张吉林[1] 刘冲[2] 单雪梅[3] 宋玉国[1] 

机构地区：[1]北华大学医学检验学院分子生物学教研室,吉林132013 [2]长春理工大学校医院,长春130000 [3]吉林大学中日联谊医院麻醉科,长春130033

出　　处：《中国免疫学杂志》2015年第2期230-235,共6页Chinese Journal of Immunology

基　　金：吉林省卫生厅资助项目(No.2010z087)

摘　　要：目的:探讨吉林人群IL-23R基因rs7517847和rs10489629位点的单核苷酸多态性与强直性脊柱炎易感性的关系。方法:采用PCR-RFLP方法对188例强直性脊柱炎患者进行IL-23R基因多态性检测,与100例健康者对照分析。结果:两个SNP位点(rs7517847和rs10489629)各基因型频率和等位基因频率在AS组与对照组之间的分布差异均有统计学意义(P<0.05),并在假设遗传方式下,rs7517847位点的纯合突变GG基因型与(TG+TT)基因型比较;rs10489629位点的纯合突变AA基因型与(GA+GG)基因型比较,其频率分布差异在AS组与对照组之间也具有统计学意义(P<0.05)。结论:IL-23R基因rs7517847和rs10489629位点的多态性均与吉林人群AS易感性有关;携带G等位基因(或A等位基因)且为GG(或AA)基因型的个体患AS的倾向性增大,可能是患AS的易感因素之一。Objective： To investigate the correlation between single nucleotide polymorphism （SNP） of rs7517847 and rs10489629 on IL-23R gene and susceptibility of ankylosing spondylitis in Jilin. Methods： IL-23R gene polymorphisms of 188 cases on ankylosing spondylitis were detected by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） , compared with those of 100 cases of healthy control group. Results： The frequency distribution differences,between AS group and comparison group of separate genotype and the allele on two SNPs （rs7517847 and rs10489629 ） both showed statistical significance（ P〈0. 05 ）. Meanwhile, by the assumed genetic way, compared homozygous mutant GG of rs7517847 with TG ＋qT, compared homozygous mutant AA of rs10489629 with GA＋GG,such frequency distribution difference between the above two groups also showed statistical significance（ P〈 0. 05）. Conclusion： Polymorphisms about IL-23R gene of the rs7517847 and rs10489629 are both associated with susceptibility of AS in Jilin. The risk of AS will be increased if the person both with G/A allele and GG/AA genotype, which may be one of susceptive factors by AS.

关 键 词：强直性脊柱炎 白细胞介素23受体 单核苷酸多态性 易感性 基因 

分 类 号：R392.2[医药卫生—免疫学]