Common polymorphisms of protein tyrosine phosphate non-receptor type 2 gene are not associated with risk of Crohn’s disease in Indian  

作　　者：Kaushik Chatterjee Amit Kumar Dutta Ashish Goel Rekha Aaron Vijayalekshmi Balakrishnan Ajith Thomas Anoop John Rajeeb Jaleel Deepu David Reuben Thomas Kurien SD Chowdhury Ebby George Simon AJ Joseph Prasanna Premkumar Anna B Pulimood 

机构地区：[1]Department of Gastrointestinal Sciences,Christian Medical College and Hospital,Vellore 632004,Tamil Nadu,India [2]Department of Gastroenterology,Christian Medical College,Vellore 632004,Tamil Nadu,India [3]Departments of Biostatistics,Christian Medical College,Vellore 632004,Tamil Nadu,India

出　　处：《World Journal of Gastrointestinal Pathophysiology》2022年第4期114-123,共10页世界胃肠病理生理学杂志（英文版）（电子版）

基　　金：Supported by the CMC Vellore FLUID grant,No.10360.

摘　　要：BACKGROUND Multiple genetic risk factors for Crohn’s disease(CD)have been identified.However,these observations are not consistent across different populations.The protein tyrosine phosphate non-receptor type 2(PTPN2)gene plays a role in various aspects of host defense including epithelial barrier function,autophagy,and innate and adaptive immune response.Two common polymorphisms in the PTPN2 gene(rs2542151 and rs7234029)have been associated with risk of CD in Western countries.AIM To evaluate the association of PTPN2 gene polymorphisms with risk of CD in Indian population.METHODS We conducted a prospective case-control study.Patients with CD were recruited,and their clinical and investigation details were noted.Controls were patients without organic gastrointestinal disease or other comorbid illnesses.Two common polymorphisms in the PTPN2 gene(rs2542151 and rs7234029)were assessed.DNA was extracted from peripheral blood samples of cases and controls and target DNA was amplified using specific sets of primers.The amplified fragments were digested with restriction enzymes and the presence of polymorphism was detected by restriction fragment length polymorphism.The frequency of alleles was determined.The frequencies of genotypes and alleles were compared between cases and controls to look for significant differences.RESULTS A total of 108 patients with CD(mean age 37.5±12.7 years,females 42.6%)and 100 controls(mean age 39.9±13.5 years,females 37%)were recruited.For the single nucleotide polymorphism(SNP)rs7234029,the overall frequency of G variant genotype(AG or GG)was noted to be significantly lower in the cases compared to controls(35.2%vs 50%,P=0.05).For the SNP rs2542151,the overall frequency of G variant genotype(GT or GG)was noted to be similar in cases compared to controls(43.6%vs 47%,P=0.73).There were no significant differences in minor allele(G)frequency for both polymorphisms between the cases and controls.Both the SNPs had no significant association with age of onset of illness,gender,disease locati

关 键 词：PTPN2 gene Crohn’s disease Genetic polymorphism Case-control study Asia Risk factor 

分 类 号：R574.62[医药卫生—消化系统]