PTPN2基因单核苷酸多态性与中国东北地区人群溃疡性结肠炎的关系  

The relationship of PTPN2 rs2542151polymorphism with ulcer colitis in northeast chinese population

作　　者：刘昌恩 黄玉红[1] 孙明军[1] 

机构地区：[1]中国医科大学附属第一医院消化内科,辽宁沈阳110001

出　　处：《解剖科学进展》2015年第5期522-526,共5页Progress of Anatomical Sciences

基　　金：辽宁省科技计划项目(No.2009225022)

摘　　要：目的探讨我国东北地区人群PTPN2 rs2542151基因多态性与溃疡性结肠炎(ulcerative colitis,UC)遗传易感性、疾病活动性和严重性的关系。方法收集115例UC患者和99例健康对照者全血,应用TAQMAN探针,Realtime-PCR检测PTPN2 rs2542151位点等位基因多态性。结果 UC组PTPN2 rs2542151 T等位基因频率,G等位基因频率分别为79.13%,20.87%;对照组分别为85.35%,14.65%,差异无统计学意义(>0.05)。GG纯合子相对于TT纯合子和TG杂合子UC易感性较健康对照组有显著差异(=0.042)。基因型是TG的患者病情为重度的可能性是GG的11.553倍(<0.05)。PTPN2 rs2542151位点基因多态性与UC患者的发病年龄、性别、血红蛋白、血沉、C反应蛋白、血小板、临床分型及发病部位无关(>0.05)。结论 PTPN2 rs2542151单核苷酸多态性与中国东北地区人群UC易感性相关,PTPN2 rs2542151基因突变可影响UC的病情严重程度。Objective To investigate the relationship of PTPN2 rs2542151 gene polymorphism with hereditary susceptibility and disease activity and severity of ulcerative colitis（UC） patients. Methods The target SNP was directly sequenced by Taqman genotyping and Realtime-PCR in 115 UC cases and 99 healthy populaton. Results The allelic frequency of rs2542151 was 79.13%（T） and 20.87%（G） in UC patients, 85.35%（T） and 14.65%（G） in normal population respectively, with no difference between UC patient and normel control（P〉0.05）. GG genotype was associated with an increased risk of UC（ P=0.042）, but not for TT＋TG genotype. The disease severity of the patients with TG genotype was 11.553 times as much as the patients with GG genotype. PTPN2 rs2542151 gene polymorphism was not related to the age, gender, hemoglobin（HGB）, erythrocyte sedimentation rate（ESR）, C-reactive protein（CRP）,platelets（PLT）, the disease activity and location of lesions of patients with UC（P〉0.05）. Conclusion PTPN2 rs2542151 gene polymorphism was related to the ulcerative colitis susceptibility in the northeast chinese population, the mutation of PTPN2 rs2542151 gene may influence the severity of UC.

关 键 词：人溃疡性结肠炎 非受体型蛋白酪氨酸磷酸酶2 单核苷酸多态性 易感性 

分 类 号：R574.62[医药卫生—消化系统]