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Role of newly identified genetic variant rs2494938 of LRFN2 gene with
Esophageal carcinoma among population of Jammu and Kashmir-India

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Ruchi Shah , Sonali Verma , Amrita Bhat , Hemender Singh , Indu Sharma , Varun Sharma ,
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Ghulam Rasool Bhat , Gulzar Ahmed Bhat , Rakesh Kumar , Sandeep Kaul , Nazir Ahmed Dar and Swarkar Sharma .
Author's Affiliation
1) Human Genetics Research Group, Shri Mata Vaishno Devi University, Katra, Jammu and Kashmir, 182320.
2) School of Biotechnology, Shri Mata Vaishno Devi University, Katra, Jammu and Kashmir,182320.
3) Department of Biochemistry, University of Kashmir, J&K,180001.
4) Surgical Oncologist, SMVD Narayana Super Specialty Hospital, Katra, 182320

Esophageal carcinoma in Jammu and Kashmir ranks third among other cancers . The main risk factors include dietary
habits , smoking ,alcohol consumption and genetics. In 90% of cases it is squamous cell carcinoma type and it's
incidence rate is high in Asian countries like China and Japan. In recent studies LRFN2 gene variant 2494938 has

been found in association with increased risk of esophageal carcinoma in Chinese population.. However, this
association has never been replicated in any of the Indian populations despite higher incidences of the disease in the

region.
In this study, we explored the variant rs2494938 for association with Esophageal cancer in the population of Jammu
and Kashmir- India in a candidate gene case-control based study design. Variant rs2494938 was observed to be
significantly associated with the Esophageal cancer with an allelic odds ratio (OR) 1.59 (1.23-2.04 at 95% CI,

p=0.0003) in the population. It is concluded that an extended study involving screening of the gene for functional
variations is critically warranted in the population.

Corresponding Author
Swarkar Sharma
Human Genetics Research Group,
Shri Mata Vaishno Devi University, Katra,
Jammu and Kashmir, 182320
Nazir Ahmed Dar
Department of Biochemistry,
University of Kashmir,
Jammu and Kashmir,180001.

The Integrated Indian Journal of Cancer Sciences