IL-23R基因多态性与炎症性肠病的相关性  

Association between IL-23R single nucleotide polymorphisms and inflammatory bowel disease

作　　者：陆忠凯[1] 陈志荣[1] 朱俊义[1] 徐亚[1] 华娴[1] 

机构地区：[1]南京医科大学附属苏州市立医院(东区)消化科,江苏省苏州市215001

出　　处：《世界华人消化杂志》2011年第19期2076-2080,共5页World Chinese Journal of Digestology

基　　金：江苏省医学重点学科-江苏省人民医院胃肠病学开放课题基金资助项目;No.KF200936-2~~

摘　　要：目的:研究我国炎症性肠病患者IL-23R基因单核苷酸多态性特征,探讨其与炎症性肠病(IBD)的相关性.方法:采用PCR扩增和测序的方法对198例IBD患者和100名健康体检者(对照组)IL-23R基因3个非同义单核苷酸多态性(rs11209026,p.Arg381Gln;rs41313262,p.Val362Ile;rs11465797,p.Thr175Asn)进行分析,分别计算其等位基因的表现频率,并结合临床资料评估其多态性与IBD的相关性.结果:(1)IBD中克罗恩病(CD)患者IL-23RArg-381Gln等位基因A的表现频率为2.70%,低于对照组(6.00%),但无统计学差异,溃疡性结肠炎(UC)患者的表现频率为5.65%,与对照组无统计学差异;(2)IBD中CD患者IL-23RVal-362Ile等位基因A的表现频率为2.70%,UC组为2.42%,对照组为2.00%,3组间无明显统计学差异;(3)IBD及对照组中均无Thr175Asn等位基因A表现,相应位点均表现为C.结论:我国IL-23R单核苷酸多态性与IBD无明显相关性,遗传异质性可能决定了IBD的易感性.AIM：To detect the association between single nucleotide polymorphism（SNP）of the interleukin-23 receptor（IL-23R）gene and inflammatory bowel disease（IBD）in Chinese patients. METHODS：We examined three nonsynonymous SNPs in the IL-23R gene which lead to amino acid changes（rs11209026,p.Arg381Gln; rs41313262,p.Val362Ile;rs11465797,p.Thr175Asn）.The SNPs were genotyped by polymerase chain reaction（PCR）and sequenced in 198 cases of IBD[124 cases of ulcerative colitis （UC）and 74 cases of Crohn’s disease（CD）]and 100 healthy controls.The allele frequencies were calculated and analyzed to examine the relationship between IL-23R SNPs and IBD. RESULTS：The frequency of the A allele in the IL-23R Arg381Gln locus showed no significant difference between CD patients and controls （2.70%vs 6.00%,P0.05）and between UC patients and controls（5.65%vs 6.00%,P0.05）. The p.Val362Ile variant was present in 2.42% of UC patients,in 2.70%of CD patients,and in 2.00%of controls,with no significant difference among the three groups.The Thr175Asn （rs11465797 c.524 CA）variant was not detected in all the three groups. CONCLUSION：IL-23R SNPs might have no association with IBD in Chinese patients.

关 键 词：IL-23R 单核苷酸多态性 炎症性肠病 

分 类 号：R574[医药卫生—消化系统]