SNPs in sites for DNA methylation, transcription factor binding, and miRNA targets leading to Allele-specific gene expression and contributing to complex disease risk: A systematic review

Vohra, Manik and Sharma, Anu Radha and Prabhu, Navya and Rai, Padmalatha S (2020) SNPs in sites for DNA methylation, transcription factor binding, and miRNA targets leading to Allele-specific gene expression and contributing to complex disease risk: A systematic review. Public Health Genomics, 23 (5-6). pp. 155-170. ISSN 1662-4246

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Abstract

Introduction: The complex genetic diversity among human populations results from an assortment of factors acting at various sequential levels, including mutations, population migrations, genetic drift, and selection. Although there are a plethora of DNA sequence variations identified through genome-wide association studies (GWAS), the challenge remains to explain the mechanisms underlying interindividual phenotypic disparity accounting for disease susceptibility. Single nucleotide polymorphisms (SNPs) present in the sites for DNA methylation, transcription factor (TF) binding, or miRNA targets can alter the gene expression. The systematic review aimed to evaluate the complex crosstalk among SNPs, miRNAs, DNA methylation, and TFs for complex multifactorial disease risk. Methods: PubMed and Scopus databases were used from inception until May 15, 2019. Initially, screening of articles involved studies assessing the interaction of SNPs with TFs, DNA methylation, or miRNAs resulting in allele-specific gene expression in complex multifactorial diseases. We also included the studies which provided experimental validation of the interaction of SNPs with each of these factors. The results from various studies on multifactorial diseases were assessed. Results: A total of 11 articles for SNPs interacting with DNA methylation, 30 articles for SNPs interacting with TFs, and 11 articles for SNPs in miRNA binding sites were selected. The interactions of SNPs with epigenetic factors were found to be implicated in different types of cancers, autoimmune diseases, cardiovascular diseases, diabetes, and asthma. Conclusion: The systematic review provides evidence for the interplay between genetic and epigenetic risk factors through allele-specific gene expression in various complex multifactorial diseases.

Item Type: Article
Uncontrolled Keywords: Allele-specific gene expression; Complex disease; DNA methylation; Single nucleotide polymorphisms; Transcription factors; microRNAs.
Subjects: Life Sciences > MLSC Manipal
Depositing User: KMC Library
Date Deposited: 27 Jun 2021 06:00
Last Modified: 27 Jun 2021 06:00
URI: http://eprints.manipal.edu/id/eprint/156822

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