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印度东北部米佐拉姆邦民族人群胃癌的全基因组 DNA 甲基化分析。

Genome-wide DNA methylation profiling of stomach cancer in the ethnic population of Mizoram, North East India.

机构信息

Department of Zoology, North-Eastern Hill University (NEHU), Shillong, India.

National Institute of Biomedical Genomics (NIBMG), Kalyani, West Bengal, India.

出版信息

Genomics. 2022 Sep;114(5):110478. doi: 10.1016/j.ygeno.2022.110478. Epub 2022 Sep 2.

Abstract

Stomach cancer is the fifth most common cancer in terms of prevalence and incidence and the fourth leading cause of mortality in men and women worldwide. It is well-established that aberrant DNA methylation in cells can lead to carcinogenesis. The primary objective of our study was to investigate the aberrant DNA methylation status of genes associated with stomach cancer with a particular reference to the ethnic population of Mizoram, North East India. The site-level analysis identified 2883 CpG sites differentially methylated, representing ∼922 genes. Out of which 476 Differentially Methylated Positions (DMPs) were promoter-associated, 452 DMPs were hypermethylated, and 24 were hypomethylated. The region-level analysis identified 462 Differentially Methylated Regions (DMRs) corresponding to ∼320 genes, of which ∼281 genes were hypermethylated and ∼40 genes were hypomethylated. TCGA analysis showed that some of the genes had been previously implicated in other cancers including stomach cancer. Five hypermethylated genes were selected as candidate genes for further investigations and they have shown to be novel and could serve as candidate hypermethylation biomarkers for stomach cancer in this particular ethnic group.

摘要

胃癌是全球范围内发病率和患病率排名第五的癌症,也是男性和女性癌症死亡的第四大主要原因。众所周知,细胞中异常的 DNA 甲基化可导致癌变。我们研究的主要目的是研究与胃癌相关的基因的异常 DNA 甲基化状态,特别是针对印度东北部米佐拉姆邦的少数民族人群。位点水平分析确定了 2883 个差异甲基化的 CpG 位点,代表约 922 个基因。其中 476 个差异甲基化位置(DMPs)与启动子相关,452 个 DMPs 呈高甲基化,24 个呈低甲基化。区域水平分析确定了 462 个差异甲基化区域(DMRs),对应约 320 个基因,其中约 281 个基因呈高甲基化,约 40 个基因呈低甲基化。TCGA 分析表明,其中一些基因以前与其他癌症(包括胃癌)有关。选择了五个高甲基化基因作为进一步研究的候选基因,这些基因是新的,可能成为该特定族群胃癌的候选高甲基化生物标志物。

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