Open Access

ARTICLE

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

RUCHI SHAH^1,*, SONALI VERMA¹, AMRITA BHAT¹, GH RASOOL BHAT¹, VARUN SHARMA¹, INDU SHARMA¹, HEMENDER SINGH¹, SANDEEP KAUL², EKTA RAI¹, SWARKAR SHARMA^1,*

1 Human Genetics Research Group, Shri Mata Vaishno Devi University, Katra, Jammu and Kashmir, 182320, India
2 Surgical Oncologist, SMVD Narayana Super Specialty Hospital, Katra, Jammu and Kashmir, 182320, India

* Address correspondence to: Ruchi Shah, ; Swarkar Sharma,

BIOCELL 2021, 45(3), 665-670. https://doi.org/10.32604/biocell.2021.09629

Received 10 January 2020; Accepted 14 May 2020; Issue published 03 March 2021

Abstract

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.

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