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<p>The complete sequencing of the human genome has unveiled over 3 billion base pairs, deepening our understanding of genetic diversity. Single nucleotide polymorphisms (SNPs), the most prevalent genetic variation, play a crucial role in phenotypic diversity and disease susceptibility. SNPs can influence gene regulation through epigenetic mechanisms by altering transcription factor binding, DNA methylation patterns, and chromatin structure. They impact enhancer-promoter interactions, leading to transcriptional changes that can influence health outcomes. Additionally, SNPs in protein-coding regions can modify amino acid sequences, affecting protein function, stability, and post-translational modifications. Histone-associated SNPs have been linked to chromatin dynamics and gene expression modulation, while SNPs in key enzymes, such as arsenic methyltransferase (AS3MT), demonstrate how genetic variation can impact detoxification pathways and epigenetic modifications. These variations have significant implications for disease susceptibility, occupational health, and pharmacogenomics. As research progresses, the interplay between SNPs and epigenetics is emerging as a critical factor in understanding complex gene regulatory mechanisms and in developing new targeted therapeutic strategies, owing to their potential to generate neo-antigens. Future advancements, including artificial intelligence-driven genomic analysis, will further elucidate SNP-associated epigenetic influences, paving the way for precision medicine and novel therapeutic strategies. This review integrates key findings to highlight the profound impact of SNPs on gene expression and human health.</p>

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Single nucleotide polymorphisms and epigenetic crosstalk: unraveling the intricate interplay in genomic regulation

  • 期刊论文

  • 发表日期：

    2025年6月25日

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  • Somnath Paul

摘要

The complete sequencing of the human genome has unveiled over 3 billion base pairs, deepening our understanding of genetic diversity. Single nucleotide polymorphisms (SNPs), the most prevalent genetic variation, play a crucial role in phenotypic diversity and disease susceptibility. SNPs can influence gene regulation through epigenetic mechanisms by altering transcription factor binding, DNA methylation patterns, and chromatin structure. They impact enhancer-promoter interactions, leading to transcriptional changes that can influence health outcomes. Additionally, SNPs in protein-coding regions can modify amino acid sequences, affecting protein function, stability, and post-translational modifications. Histone-associated SNPs have been linked to chromatin dynamics and gene expression modulation, while SNPs in key enzymes, such as arsenic methyltransferase (AS3MT), demonstrate how genetic variation can impact detoxification pathways and epigenetic modifications. These variations have significant implications for disease susceptibility, occupational health, and pharmacogenomics. As research progresses, the interplay between SNPs and epigenetics is emerging as a critical factor in understanding complex gene regulatory mechanisms and in developing new targeted therapeutic strategies, owing to their potential to generate neo-antigens. Future advancements, including artificial intelligence-driven genomic analysis, will further elucidate SNP-associated epigenetic influences, paving the way for precision medicine and novel therapeutic strategies. This review integrates key findings to highlight the profound impact of SNPs on gene expression and human health.