将 CDH1 SNPs 与胃癌风险相关联：rs16260、rs13689 和 rs9929218 的综合分析。

Linking CDH1 SNPs to gastric cancer risk: a comprehensive analysis of rs16260, rs13689, and rs9929218.

机构信息

Faculty of Medicine, Department of General Surgery, Van Yuzuncu Yıl University, Van, Turkey.

Department of General Surgery, Van Education and Research Hospital, Van, Turkey.

出版信息

Mol Biol Rep. 2024 Nov 17;51(1):1162. doi: 10.1007/s11033-024-10094-7.

DOI:10.1007/s11033-024-10094-7

PMID:39550749

Abstract

OBJECTIVE

Single nucleotide polymorphisms (SNPs) are linked to carcinogenesis. Pathogenic variants in the CDH1 gene are associated with gastric cancer. This study examines the genotype and allele frequencies of three SNPs (rs16260, rs13689, and rs9929218) in the CDH1 gene and their relationship with gastric cancer risk.

MATERIALS AND METHODS

The study involved 105 gastric cancer patients with pathology results and 105 healthy controls. Clinical, histopathological, and demographic data were collected and compared between the two groups.

RESULTS

No significant differences were found for rs16260 (- 160 C > A) and rs9929218 (G > A) between patients and controls (p > 0.05). For rs13689 (T > C), the T allele frequency was 90% in patients versus 69% in controls, while the C allele frequency was 10% in patients versus 31% in controls. A significant difference was observed for this SNP, with a higher T allele frequency in patients (OR = 4.03 CI95% 2.4-6.7, p < 0.0001) compared with controls, suggesting a fourfold increased risk of gastric cancer. Genotype frequencies were 80% wild-type (TT) and 20% heterozygous-type (TC) in patients, and 58% TT, 22% TC, and 20% mutant-type (CC) in controls (p < 0.0001). The frequencies of non-C allele carriers (TT) were present in 80% of patients versus 58.1% of controls (OR = 2.88 CI95% 1.56-5.34, p = 0.0006).

CONCLUSION

This study is the first to link the rs13689 SNP's T allele and TT genotype with increased gastric cancer risk. Our results suggest that the rs13689 T allele may contribute significantly to disease susceptibility, while the rs16260 CC genotype and rs9929218 GG genotype may influence risk in smokers.

摘要

目的

单核苷酸多态性（SNP）与致癌作用有关。CDH1 基因的致病性变异与胃癌有关。本研究检测了 CDH1 基因中三个 SNP（rs16260、rs13689 和 rs9929218）的基因型和等位基因频率及其与胃癌风险的关系。

材料与方法

本研究纳入了 105 例经病理证实的胃癌患者和 105 例健康对照者。收集并比较了两组的临床、组织病理学和人口统计学资料。

结果

患者与对照组在 rs16260（-160C > A）和 rs9929218（G > A）位点的等位基因频率无显著差异（p > 0.05）。rs13689（T > C）位点，患者中 T 等位基因频率为 90%，对照组为 69%，而 C 等位基因频率为患者 10%，对照组 31%。该 SNP 存在显著差异，患者 T 等位基因频率较高（OR=4.03，95%CI95%2.4-6.7，p < 0.0001），提示胃癌风险增加 4 倍。患者的基因型频率为 80%野生型（TT）和 20%杂合型（TC），对照组为 58% TT、22% TC 和 20%突变型（CC）（p < 0.0001）。非 C 等位基因携带者（TT）在患者中的频率为 80%，在对照组中的频率为 58.1%（OR=2.88，95%CI95%1.56-5.34，p=0.0006）。