de Oliveira Naila Francis Paulo, Persuhn Darlene Camati, Dos Santos Maria Cristina Leme Godoy
Department of Molecular Biology, Center for Exact and Natural Sciences, Federal University of Paraíba-UFPB, João Pessoa 58051-900, PB, Brazil.
Department of Celular Biology, Federal University of Paraná-UFPR, Curitiba 80060-000, PR, Brazil.
Genes (Basel). 2024 Nov 24;15(12):1504. doi: 10.3390/genes15121504.
Global methylation refers to the total methylation in the DNA and can also be inferred from the Line 1 and Alu regions, as these repeats are very abundant in the genome. The main function of DNA methylation is to control gene expression and is associated with both normal and pathological mechanisms. DNA methylation depends on enzymes that generate the methyl radical (e.g., methylenetetrahydrofolate reductase-MTHFR) and attach this radical to the DNA (DNA methyltransferases-DNMT). Genetic variants such as single nucleotide polymorphisms (SNP) in these genes can lead to changes in the activity or expression of MTHFR and DNMT proteins and consequently influence the DNA methylation profile. This review focuses on studies investigating inter-individual variations in the global DNA methylation profile associated with genetic polymorphisms in the and genes.
A narrative review was conducted, taking into account articles published in the last 15 years.
It was found that the SNPs rs1801131, rs1801133 and rs1537514 in the gene, rs2241531, rs2228611, rs2228612, rs21124724 and the haplotype rs2288349, rs2228611, rs2228612, rs16999593 in the gene, rs2424909, rs998382, rs6058891, rs6058897, rs4911256, rs2889703 and rs1883729 in the were associated with the level of global DNA methylation, including LINE and Alu regions in different contexts. No association was found with polymorphisms in the gene.
It is concluded that polymorphisms in the and genes may influence the global DNA methylation profile in health, inflammation, tumours and mental illness.
全基因组甲基化是指DNA中的总甲基化水平，也可通过1号序列（Line 1）和Alu区域来推断，因为这些重复序列在基因组中非常丰富。DNA甲基化的主要功能是控制基因表达，与正常和病理机制均相关。DNA甲基化依赖于产生甲基自由基的酶（如亚甲基四氢叶酸还原酶-MTHFR）以及将该自由基附着于DNA的酶（DNA甲基转移酶-DNMT）。这些基因中的单核苷酸多态性（SNP）等遗传变异可导致MTHFR和DNMT蛋白的活性或表达发生变化，进而影响DNA甲基化谱。本综述聚焦于研究与 基因和 基因中的遗传多态性相关的全基因组DNA甲基化谱的个体间差异。
进行了一项叙述性综述，纳入了过去15年发表的文章。
发现 基因中的SNP rs1801131、rs1801133和rs1537514， 基因中的rs2241531、rs2228611、rs2228612、rs21124724以及单倍型rs2288349、rs2228611、rs2228612、rs16999593， 基因中的rs2424909、rs998382、rs6058891、rs6058897、rs4911256、rs2889703和rs1883729与全基因组DNA甲基化水平相关，包括在不同背景下的1号序列（Line 1）和Alu区域。未发现与 基因中的多态性存在关联。
得出结论， 基因和 基因中的多态性可能会影响健康、炎症、肿瘤和精神疾病中的全基因组DNA甲基化谱。
