Health implications of genetic variants in the circadian rhythm: a mini review

This mini-review explores the role of circadian rhythm-related gene polymorphisms, particularly single-nucleotide polymorphisms (SNPs), in the development of various diseases, including cancer, chronic inflammatory diseases, cognitive decline, and mood disorders. We conducted a structured literature search across PubMed, Google Scholar, SCOPUS, and Web of Science to identify human studies examining associations between SNPs in circadian genes (e.g., CLOCK, BMAL1, PER2, MTNR1B) and disease susceptibility. The search strategy incorporated predefined keywords, Boolean operators, and specific inclusion/exclusion criteria, focusing exclusively on human research to ensure clinical and translational relevance. Alterations in circadian genes, especially SNPs, have been linked to cancers like lung, breast, and prostate by disrupting key cellular processes, including DNA repair and apoptosis. Additionally, these gene variations are associated with chronic inflammatory conditions, cognitive impairment, and mood disorders. Understanding circadian gene variations provides valuable insights into predicting disease risk and progression. The synthesis of human genetic evidence underscores the importance of integrating circadian biology into precision medicine and highlights the need for further human-focused research across diverse populations. This knowledge holds promise for developing personalized treatment strategies tailored to an individual’s genetic makeup.