AT-rich Interaction Domain 1A Gene Variations: Genetic Associations and Susceptibility to Gastric Cancer Risk
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ORIGINAL ARTICLE
AT-rich Interaction Domain 1A Gene Variations: Genetic Associations and Susceptibility to Gastric Cancer Risk Jasiya Qadir 1 & Sabhiya Majid 1 & Mosin S. Khan 1 & Fouzia Rashid 2 & Mumtaz Din Wani 3 & Inshah Din 1 & Haamid Bashir 1 Received: 16 April 2020 / Accepted: 24 April 2020 # Arányi Lajos Foundation 2020
Abstract AT-rich interaction domain containing protein 1A (ARID1A), has recently emerged as a novel class of gene which acts as a potent tumor suppressor in numerous types of cancers such as Gastric, Breast, Ovarian, Colorectal, Lung cancers. ARID1A is involved in the regulation of various cellular processes such as proliferation, differentiation and DNA repair, yet its association with the susceptibility of cancer remains unknown. Here, we aimed to analyse the association of the ARID1A variants (Pro912Thr, Gln944Lys and Gln920Ter) with the risk of Gastric cancer (GC) in Kashmiri population. The study included 103 confirmed cases of GC and 163 normal controls. The genotypes were studied using Polymerase Chain Reaction. Different bioinformatic predictive tools were also used to analyse the possible effect of these SNP’s on the resultant protein. The Pro912Thr and Gln920Ter variants of ARID1A showed significant difference in genotypic and allelic frequencies between the GC cases and controls (P < 0.05), whereas, the data did not reveal any correlation between Gln944Lys variant and Gastric cancer risk. Both Pro912Thr and Gln920Ter SNP’s follow “Dominant mode of inheritance”. In Silico analysis predicted that amino acid substitution of Pro912Thr SNP decreases the protein stability thus changing the functional properties of resultant protein, so backing the possibility of damaging effect of this SNP. Our study suggests that Pro912Thr and Gln920Ter SNP’s of ARD1A gene are associated with increased risk of GC in Kashmiri population. Keywords ARID1A; Gastric cancer; Pro912Thr . Gln944Lys . Gln920Ter . Kashmiri Population
Introduction Worldwide, Gastric cancer (GC) is one of the most frequently diagnosed cancer and the third leading cause of cancer-related deaths [1]. In 2018, over one million new cases of GC were reported and 783,000 deaths were estimated [1]. In Kashmir valley (North India), GC is the most commonly encountered cancer in men (25.2%) and third leading cancer site in women Sabhiya Majid and Mosin S. Khan have contributed equally as second authors. * Sabhiya Majid [email protected] 1
Department of Biochemistry and Research Centre University of Kashmir, Government Medical College Srinagar and Associated Hospitals , Srinagar 190010, India
2
Department of Clinical Biochemistry, University of Kashmir, 190006 Srinagar, India
3
Department of Surgery, Government Medical College Srinagar and Associated Hospitals, 190010 Srinagar, India
(10.4%) [2, 3]. The environmental factors and accumulation of genetic and epigenetic alterations with susceptibility of oncogenic mutations, were found to be associated with the increased risk of GC [4]. In Kashmir valley, the high incidence rate of
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