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Newly identified genetic variant rs2294693 in UNC5CL gene is associated with decreased risk of esophageal carcinoma in the J&K Population–India

作     者:RUCHI SHAH SONALI VERMA AMRITA BHAT GH RASOOL BHAT VARUN SHARMA INDU SHARMA HEMENDER SINGH SANDEEP KAUL EKTA RAI SWARKAR SHARMA 

作者机构:Human Genetics Research GroupShri Mata Vaishno Devi UniversityKatraJammu and Kashmir182320India Surgical OncologistSMVD Narayana Super Specialty HospitalKatraJammu and Kashmir182320India 

出 版 物:《BIOCELL》 (生物细胞(英文))

年 卷 期:2021年第45卷第3期

页      面:665-670页

核心收录:

学科分类:0710[理学-生物学] 0831[工学-生物医学工程(可授工学、理学、医学学位)] 1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

基  金:Department of Science and Technology  Ministry of Science and Technology  India  डीएसटी  (SR/WOS-A/LS1067/2015) 

主  题:Esophageal cancer Single nucleotide polymorphism Unc-5 Family C-Terminal(UNC5CL) Candidate gene 

摘      要:Esophageal cancer is the second most common type of cancer after lung carcinoma in the state of Jammu and Kashmir(J&K).The understanding of genetics in Esophageal cancer development is poor in the *** wide association studies(GWAS)has proved to be unsurpassed tool in identification of new loci associated with different *** in Chinese population has identified SNP rs2294693 present in UNC5CL(UNC-5 Family C-Terminal like)to be associated with non-cardia gastric *** performed a case control association study and genotyped the SNP rs2294693 using Taqman allele discrimination assay in 566 individuals(166 esophageal cancer patients and 400 controls)belonging to the J&K population.A statistically significant protective association with allelic odds ratio of 0.73(0.56–0.94 at 95%CI)and p value=0.016 was *** is the first study in relation to esophageal cancer in the Jammu and Kashmir population,so far it has been studied in association with gastric carcinoma in the Chinese population *** results indicate that the polymorphism rs2294693 is associated with esophageal cancer susceptibility and the mutant(T)allele might be a protective factor for esophageal cancer among Jammu and Kashmir *** the functional characterization of the variation is also warranted.

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