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

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 state.Genome wide association studies(GWAS)has proved to be unsurpassed tool in identification of new loci associated with different cancers.GWAS in Chinese population has identified SNP rs2294693 present in UNC5CL(UNC-5 Family C-Terminal like)to be associated with non-cardia gastric cancer.We 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 observed.This 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 only.The 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 population.Further the functional characterization of the variation is also warranted.