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.

中文翻译：

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富含AT的相互作用域1A基因变异：遗传关联和胃癌风险的易感性。

富含AT的相互作用域包含蛋白1A（ARID1A），最近作为一类新的基因出现，在许多类型的癌症（例如胃癌，乳腺癌，卵巢癌，结肠直肠癌，肺癌）中起着有效的抑癌作用。ARID1A参与各种细胞过程的调控，例如增殖，分化和DNA修复，但其与癌症易感性的关联仍未知。在这里，我们旨在分析ARID1A变体（Pro912Thr，Gln944Lys和Gln920Ter）与克什米尔居民中胃癌（GC）风险的关系。该研究包括103例确诊的GC病例和163例正常对照。使用聚合酶链反应研究基因型。还使用了不同的生物信息学预测工具来分析这些SNP对所得蛋白质的可能影响。ARID1A的Pro912Thr和Gln920Ter变体在GC病例和对照组之间的基因型和等位基因频率上显示出显着差异（P <0.05），而数据并未显示Gln944Lys变体与胃癌风险之间的任何相关性。Pro912Thr和Gln920Ter SNP都遵循“显性继承模式”。In Silico分析预测Pro912Thr SNP的氨基酸取代会降低蛋白质的稳定性，从而改变所得蛋白质的功能特性，因此支持了破坏该SNP的可能性。我们的研究表明，ARD1A基因的Pro912Thr和Gln920Ter SNP与克什米尔居民中GC风险增加有关。