Aims

The purpose of the present study was to analyze the role of selected polymorphisms of SIRT3 and SIRT5 in gastric carcinogenesis.

Methods

For this study, 500 blood samples of GC patients and 500 blood samples of healthy individuals were collected. Six selected polymorphisms of mitochondrial sirtuins were analyzed for analysis using Tetra-Arms PCR followed by DNA sequencing.

Results

Mutant allele frequencies of selected polymorphisms [rs3782116 (p < 0.0001), rs6598072 (p < 0.0001) and rs11246020 (p < 0.0001), rs938222 (p = 0.0136), rs3757261 (p = 0.0005) and rs2841511 (p = 0.0015)] were observed significant higher in GC patients vs controls. Haplotype analysis was performed, and 51 haplotypes were generated using haploview software. Among these haplotypes, eleven haplotypes were found associated with a significantly increased risk of GC. Furthermore, SNP-SNP interaction showed a significant correlation between studied SNPs and GC risk. Kaplan Meier analysis showed that mutant allele frequencies of selected polymorphisms are linked with a significant decrease in survival of GC patients

Conclusions

It can be concluded that selected SNPs may be associated with enhanced risk of GC and hence can be potential prognostic markers for prognosis and predisposition of GC.

中文翻译：

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线粒体sirtuins遗传变异和胃癌风险：来自回顾性观察研究的证据

宗旨

本研究的目的是分析选定的SIRT3和SIRT5多态性在胃癌发生中的作用。

方法

在这项研究中，收集了 500 份 GC 患者的血样和 500 份健康人的血样。使用 Tetra-Arms PCR 和 DNA 测序分析了六种选定的线粒体沉默调节蛋白多态性以进行分析。

结果

选定多态性的突变等位基因频率 [rs3782116 (p < 0.0001), rs6598072 (p < 0.0001) 和 rs11246020 (p < 0.0001), rs938222 (p = 0.01356), 10222 (p = 0.01356) (p < 0.0001), 10222 (p = 0.01357), 10072 (p < 0.0001), 10.557), 10.057)10在 GC 患者中观察到显着高于对照组。进行了单倍型分析，使用haploview软件生成了51个单倍型。在这些单倍型中，发现 11 种单倍型与显着增加的 GC 风险相关。此外，SNP-SNP 相互作用显示研究的 SNP 与 GC 风险之间存在显着相关性。Kaplan Meier 分析表明，选定多态性的突变等位基因频率与 GC 患者存活率的显着降低有关

结论

可以得出结论，选定的 SNP 可能与 GC 风险增加有关，因此可以作为 GC 预后和易感性的潜在预后标志物。