Department of Biology, Faculty of Science, Ferdowsi University of Mashhad, Mashhad, Iran.
Novel Diagnostics and Therapeutics Research Group, Institute of Biotechnology, Ferdowsi University of Mashhad, Mashhad, Iran.
Mol Biol Rep. 2021 Mar;48(3):2273-2284. doi: 10.1007/s11033-021-06249-5. Epub 2021 Mar 13.
Genome-wide association studies have revealed that some single nucleotide polymorphisms at 8q24, such as rs6983267, might be effective in susceptibility to various cancers in different populations. Therefore, rs6983267 might be useful as a marker for multiple cancers. In this study, we considered a population, including 478 gastrointestinal cancer cases from the Iranian population, to investigate the association between rs6983267 and susceptibility to gastrointestinal cancers. The samples were genotyped using the TaqMan real-time PCR method while 10% of them were also confirmed by sequencing. Higher frequency of G allele was associated with higher grades of tumors in esophageal cancer and the tumors located in the lower portion of the esophagus (OR 3.56; 95% CI 1.13-11.24; P = 0.03) and cardia (OR 5.24; 95% CI 1.26-21.83; P = 0.02), which both locations are involved in esophageal adenocarcinomas with poor prognosis. The results indicated that in the male subgroup, the rs6983267 GG genotype significantly enhanced the gastric cancer susceptibility (OR 4.76; 95% CI 1.57-14.45; P = 0.01). GG genotype also increased the risk of intestinal-type gastric cancer, located in non-cardia (OR 4.62; 95% CI 1.25-17.04; P = 0.02). Moreover, gastric cancer cases and controls with a family history of gastrointestinal tumors were mostly genotyped with the G allele (OR 3.61; 95% CI = 1.09-12.01; P = 0.04). There were no remarkable associations between rs6983267 and susceptibility to esophageal and colon cancers in the Iranian population. However, different genotypes of rs6983267 had significant correlations with tumor grade, cancer type, and family history of gastrointestinal cancers. Further investigations in a larger population and other ethnicities are required to confirm these results.
全基因组关联研究表明,8q24 上的一些单核苷酸多态性,如 rs6983267,可能在不同人群中对各种癌症的易感性方面具有作用。因此,rs6983267 可能作为多种癌症的标记物有用。在这项研究中,我们考虑了一个包括 478 例来自伊朗人群的胃肠道癌病例的人群,以调查 rs6983267 与胃肠道癌易感性之间的关联。使用 TaqMan 实时 PCR 方法对样本进行基因分型,其中 10%的样本通过测序进行确认。在食管癌和位于食管下段(OR 3.56;95%CI 1.13-11.24;P=0.03)和贲门(OR 5.24;95%CI 1.26-21.83;P=0.02)的肿瘤中,G 等位基因的较高频率与肿瘤的较高分级相关,这些位置都涉及预后不良的食管腺癌。结果表明,在男性亚组中,rs6983267 GG 基因型显著增加胃癌易感性(OR 4.76;95%CI 1.57-14.45;P=0.01)。GG 基因型还增加了非贲门部位肠型胃癌的风险(OR 4.62;95%CI 1.25-17.04;P=0.02)。此外,具有胃肠道肿瘤家族史的胃癌病例和对照者主要携带 G 等位基因(OR 3.61;95%CI=1.09-12.01;P=0.04)。在伊朗人群中,rs6983267 与食管癌和结肠癌的易感性之间没有显著关联。然而,rs6983267 的不同基因型与肿瘤分级、癌症类型和胃肠道癌症家族史有显著相关性。需要在更大的人群和其他种族中进行进一步的研究来证实这些结果。