The age-standardized incidence rate for gastric cancer is estimated to be 11.1% worldwide and 39.1% for Ardabil province in northwest Iran. Single nucleotide polymorphisms (SNPs) occur in coding and non-coding regions, contributing to cancer susceptibility. To identify SNPs predisposing individuals to gastric cancer in this region, we compared 263 variants between the Ardabil population and other populations. Whole exome sequencing was used to determine the distribution of variants in the genomic DNA of 150 volunteers (aged < 35 years) from the general population of Ardabil. We compared allele frequencies with databases such as Iranome, Alfa, GnomAD, and 1000G, and statistically analyzed their correlation with age-standardized incidence rates (ASRs) for gastric cancer in related populations using the Pearson correlation test. Some findings were validated using Sanger-based PCR-Sequencing. We determined the frequency of seventeen variants among 150 individuals with gastric cancer and 150 healthy volunteers (matched for age and sex) as the control group. Nineteen variants, including rs10061133, rs1050631, rs12220909, rs12983273, rs1695, rs2274223, rs2292832, rs2294008, rs2505901, rs2976391, rs33927012, rs3744037, rs3745469, rs4789936, rs4986790, rs4986791, rs6194, rs63750447, and rs6505162, were found to be significantly different between the general population of Ardabil and other populations. Among them, the variants rs1050631, rs12983273, rs1695, rs2274223, rs2292832, rs2505901, rs33927012, rs374569, and rs6505162 showed significant differences between the cases and controls. In this study, 17 variants appeared to be involved in the etiology of the high frequency of gastric cancer in the Ardabil population. Some of the observed differences were consistent with previous case–control and meta-analysis reports from various parts of the world. These findings motivate further cohort investigations in this population. Ultimately, identifying prognostic factors can help diagnose individuals predisposed to gastric cancer in this population.

中文翻译：

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伊朗西北部胃癌的基因组易感性：基于人群的病例对照研究

全球胃癌年龄标准化发病率为 11.1%，伊朗西北部阿尔达比勒省为 39.1%。单核苷酸多态性 (SNP) 发生在编码区和非编码区，导致癌症易感性。为了确定该地区个体易患胃癌的 SNP，我们比较了阿尔达比勒人群和其他人群之间的 263 个变异。全外显子组测序用于确定来自阿尔达比勒普通人群的 150 名志愿者（年龄 < 35 岁）的基因组 DNA 中的变异分布。我们将等位基因频率与Iranome、Alfa、GnomAD和1000G等数据库进行比较，并使用Pearson相关性检验统计分析其与相关人群胃癌年龄标准化发病率（ASR）的相关性。使用基于桑格的 PCR 测序验证了一些发现。我们确定了 150 名胃癌患者和 150 名健康志愿者（年龄和性别匹配）作为对照组的 17 个变异的频率。 19个变体，包括rs10061133、rs1050631、rs12220909、rs12983273、rs1695、rs2274223、rs2292832、rs2294008、rs2505901、rs2976391、rs33927012、rs374403 7、rs3745469、rs4789936、rs4986790、rs4986791、rs6194、rs63750447和rs6505162之间被发现存在显着差异阿尔达比勒的一般人口和其他人口。其中，变种rs1050631、rs12983273、rs1695、rs2274223、rs2292832、rs2505901、rs33927012、rs374569和rs6505162在病例和对照之间表现出显着差异。在这项研究中，17 个变异似乎与阿尔达比勒人群胃癌高发的病因有关。观察到的一些差异与之前来自世界各地的病例对照和荟萃分析报告一致。这些发现激发了对该人群的进一步队列研究。最终，确定预后因素可以帮助诊断该人群中易患胃癌的个体。