Molecular Analysis of Genes CEBPA, NPM1, IDH1, and RUNX1 Polymorphisms as Biomarker Potential in Leukemia Patients.

IF 3 2区医学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

Molecular Carcinogenesis Pub Date : 2024-11-20 DOI:10.1002/mc.23846

Kashif Bashir, Sadia Abdul Ghafar, Afifa Tur Rehman, Tayyaba Waris, Fatima Farooq, Amin A Alamin

{"title":"Molecular Analysis of Genes CEBPA, NPM1, IDH1, and RUNX1 Polymorphisms as Biomarker Potential in Leukemia Patients.","authors":"Kashif Bashir, Sadia Abdul Ghafar, Afifa Tur Rehman, Tayyaba Waris, Fatima Farooq, Amin A Alamin","doi":"10.1002/mc.23846","DOIUrl":null,"url":null,"abstract":"<p><p>Leukemia is found in approximately 2.3 million people worldwide and causes many deaths all over the world. This research study was conducted to figure out the link of single nucleotide polymorphisms of genes CEBPA (rs34529039), NPM1 (rs753788683), IDH1 (of rs11554137) and RUNX1 (rs13051066) polymorphisms as biomarker potential in leukemia patients. A total of 600 subjects were included in the study which included 300 patients and 300 healthy controls with age and gender matched. After DNA extraction, PCR was carried out to analyze polymorphisms of selected genes. A significant association with increased risk of leukemia by almost twofolds is observed in homozygous mutant (AA) of rs34529039 SNP of gene CEBPA (odds ratio [OR] = 1.71; 95% confidence interval [CI] = 1.04-2.82; p = 0.03) while highly significant association but with decrease risk of leukemia is observed in heterozygote genotype (CA) of same SNP (OR = 0.36; 95% CI = 0.22-0.59; p = 0.0001). A highly significant association with increased risk of leukemia up to twofolds is observed in heterozygote genotype (AG) of rs753788683 of gene NPM1 (OR 2.10: 95% CI 1.32-3.36 p = 0.0017) while increasing risk by two-fold and show significant association in homozygous mutant (AA) (OR = 1.75; 95% Cl = 1.09-2.79; p = 0.01). Leukemia risk increases by twofold and shows significant association in the homozygous mutant (AA) of rs11554137 (OR = 1.75; 95%Cl = 1.09-2.79; p = 0.01). Leukemia risk increases by twofold and shows significant association in the homozygous mutant (AA) of rs13051066 of gene RUNX1 (OR = 0.63; 95%Cl = 0.39-1.63; p = 0.06).</p>","PeriodicalId":19003,"journal":{"name":"Molecular Carcinogenesis","volume":" ","pages":""},"PeriodicalIF":3.0000,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Carcinogenesis","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/mc.23846","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Leukemia is found in approximately 2.3 million people worldwide and causes many deaths all over the world. This research study was conducted to figure out the link of single nucleotide polymorphisms of genes CEBPA (rs34529039), NPM1 (rs753788683), IDH1 (of rs11554137) and RUNX1 (rs13051066) polymorphisms as biomarker potential in leukemia patients. A total of 600 subjects were included in the study which included 300 patients and 300 healthy controls with age and gender matched. After DNA extraction, PCR was carried out to analyze polymorphisms of selected genes. A significant association with increased risk of leukemia by almost twofolds is observed in homozygous mutant (AA) of rs34529039 SNP of gene CEBPA (odds ratio [OR] = 1.71; 95% confidence interval [CI] = 1.04-2.82; p = 0.03) while highly significant association but with decrease risk of leukemia is observed in heterozygote genotype (CA) of same SNP (OR = 0.36; 95% CI = 0.22-0.59; p = 0.0001). A highly significant association with increased risk of leukemia up to twofolds is observed in heterozygote genotype (AG) of rs753788683 of gene NPM1 (OR 2.10: 95% CI 1.32-3.36 p = 0.0017) while increasing risk by two-fold and show significant association in homozygous mutant (AA) (OR = 1.75; 95% Cl = 1.09-2.79; p = 0.01). Leukemia risk increases by twofold and shows significant association in the homozygous mutant (AA) of rs11554137 (OR = 1.75; 95%Cl = 1.09-2.79; p = 0.01). Leukemia risk increases by twofold and shows significant association in the homozygous mutant (AA) of rs13051066 of gene RUNX1 (OR = 0.63; 95%Cl = 0.39-1.63; p = 0.06).

查看原文本刊更多论文

作为白血病患者潜在生物标记物的 CEBPA、NPM1、IDH1 和 RUNX1 基因多态性的分子分析

全世界约有 230 万人患有白血病，并导致许多人死亡。这项研究旨在找出 CEBPA（rs34529039）、NPM1（rs753788683）、IDH1（rs11554137）和 RUNX1（rs13051066）等基因的单核苷酸多态性与白血病患者生物标志物潜能的联系。研究共纳入了 600 名受试者，其中包括 300 名患者和 300 名年龄和性别匹配的健康对照者。提取 DNA 后，进行 PCR 分析选定基因的多态性。研究发现，CEBPA 基因 rs34529039 SNP 的同源突变体（AA）与白血病风险增加近 2 倍有明显关联（几率比 [OR] = 1.71；95% 置信区间 [CI] = 1.P=0.03），而同一 SNP 的杂合子基因型（CA）则与白血病风险降低有非常显著的关联（OR=0.36；95% CI=0.22-0.59；P=0.0001）。在 NPM1 基因 rs753788683 的杂合子基因型 (AG) 中，观察到与白血病风险增加达 2 倍的高度相关性（OR 2.10：95% CI 1.32-3.36 p = 0.0017），而在同源突变体 (AA) 中，风险增加 2 倍，并显示出显著的相关性（OR = 1.75；95% Cl = 1.09-2.79；p = 0.01）。rs11554137的同源突变体（AA）的白血病风险增加了两倍，并显示出显著的相关性（OR = 1.75; 95%Cl = 1.09-2.79; p = 0.01）。白血病风险增加了两倍，与 RUNX1 基因 rs13051066 的同源突变体（AA）有显著关联（OR = 0.63；95%Cl = 0.39-1.63；p = 0.06）。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Molecular Carcinogenesis 医学-生化与分子生物学

CiteScore

7.30

自引率

2.20%

发文量

112

审稿时长

2 months

期刊介绍： Molecular Carcinogenesis publishes articles describing discoveries in basic and clinical science of the mechanisms involved in chemical-, environmental-, physical (e.g., radiation, trauma)-, infection and inflammation-associated cancer development, basic mechanisms of cancer prevention and therapy, the function of oncogenes and tumors suppressors, and the role of biomarkers for cancer risk prediction, molecular diagnosis and prognosis.