巴基斯坦结直肠癌患者的 MLH1 启动子甲基化不符合常理

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2024-07-29 DOI:10.1016/j.genrep.2024.101995

Ayesha Azeem , Humaira Naeemi , Noor Muhammad , Asif Loya , Muhammed Aasim Yusuf , Muhammad Usman Rashid

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引用次数: 0

摘要

MLH1 启动子的制度性甲基化通过抑制 MLH1 蛋白的表达，与结直肠癌（CRC）的易感性有关。虽然在不同人群中发现的 MLH1 启动子甲基化频率各不相同，但却没有关于巴基斯坦 CRC 患者的数据。在这项研究中，我们调查了巴基斯坦 CRC 患者的 MLH1 启动子甲基化情况。我们使用甲基化敏感的高分辨率熔融（MS-HRM）测定法，以甲基化和未甲基化为标准，筛查了 210 名属于 HNPCC/疑似 HNPCC（n = 27）和非 HNPCC（n = 183）组的 CRC 患者和 100 名健康对照者的 MLH1 启动子甲基化情况。在 210 名 CRC 患者中，12.9%（n = 27）有 HNPCC 相关癌症家族史，87.1%（n = 183）的 CRC 患者无家族史（非 HNPCC 组）。发病时的平均年龄为 43.1 岁（14-77 岁不等），而对照组的平均年龄为 40.0 岁（19-74.4 岁不等）。在 210 例 CRC 患者和 100 例健康对照组中未发现 MLH1 启动子甲基化。在巴基斯坦患者中，MLH1启动子甲基化似乎与CRC易感性无关。

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Absence of constitutional MLH1 promoter methylation in Pakistani colorectal cancer patients

Constitutional methylation of the MLH1 promoter is implicated in colorectal cancer (CRC) susceptibility by silencing the expression of the MLH1 protein. While MLH1 promoter methylation has been identified in variable frequencies among various populations, no data exist for CRC patients from Pakistan. In this study, we investigated constitutional MLH1 promoter methylation in Pakistani CRC patients. We screened 210 CRC patients belonging to HNPCC/suspected-HNPCC (n = 27) and non-HNPCC (n = 183) groups and 100 healthy controls for constitutional MLH1 promoter methylation using a methylation-sensitive high-resolution melting (MS-HRM) assay with methylated and unmethylated standards. Of the 210 CRC patients, 12.9 % (n = 27) had a family history of HNPCC-associated cancers, and 87.1 % (n = 183) had CRC with no family history (non-HNPCC group). The mean age at disease onset was 43.1 years (range 14–77), while controls had a mean age at enrollment of 40.0 years (range 19–74.4). Constitutional MLH1 promoter methylation was not identified in 210 CRC patients and 100 healthy controls. Constitutional MLH1 promoter methylation does not appear to be associated with CRC susceptibility in Pakistani patients.

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.