m6A‑SNP: From genetics to epigenetics (Review)

Chaoxu Niu, Rongmiao Zhou
2022 International Journal of Epigenetics  
N 6 -methyladenosine (m 6 A), the most abundant RNA modification, can participate in various physiological functions and pathological processes by regulating the expression or structure of genes due to its involvement in all aspects of RNA metabolism. Thus, the genetic variant that influences m 6 A, such as m 6 A-associated single nucleotide polymorphism (m 6 A-SNP), which is in close proximity to or in the methylation site, may be related to various pathological processes by increasing or
more » ... asing the m 6 A methylation level due to the alteration of the nucleotide. The present review summarizes the recent advances made in m 6 A-SNPs. Both the mining of genome-wide association studies and the combined analysis of the m6Avar database with expression quantitative trait loci datasets have identified functional variants and causal genes associated with various diseases and have provided new direction for future studies on disease pathogenesis. In particular, some studies have indicated that base change in m 6 A-sNps lead to alterations in m 6 A modification levels, a conversion from genetics to epigenetics, and the expression variation of corresponding genes, which may affect the biological behavior of cells and explain the association of m 6 A-SNPs with the risk or prognosis of diseases. In bladder cancer, colorectal cancer, coeliac disease, and pancreatic ductal adenocarcinoma, the overexpression of a specific allele alone can significantly modify the function of corresponding genes. On the whole, m 6 A-SNPs play a pivotal role in all stages of diseases. In the future, the identification of m 6 A-SNPs as disease biomarkers and ascertaining the functions of these m 6 A-SNPs may prove beneficial. This would help to identify susceptible individuals in a timely manner and clarify the roles of corresponding genes in the occurrence and progression of diseases, and would also aid in the development of novel treatment strategies, ultimately improving patients' survival. Contents 1. Introduction 2. Data mining of genome-wide association studies 3. Combined analysis of the m6Avar database and eQTLs 4. Effects and mechanisms of m 6 A sNps 5. Conclusion
doi:10.3892/ije.2022.13 fatcat:di65zndyvvazddek4yzhitp65i