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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

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BIOCELL 2021年第3期45卷 665-670页

作者： RUCHI SHAH SONALI VERMA amrita bhat GH RASOOL bhat VARUN SHARMA INDU SHARMA HEMENDER SINGH SANDEEP KAUL EKTA RAI SWARKAR SHARMA Human Genetics Research Group Shri Mata Vaishno Devi UniversityKatraJammu and Kashmir182320India Surgical Oncologist SMVD Narayana Super Specialty HospitalKatraJammu and Kashmir182320India

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.

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

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