Pathophysiology: Genetics and Epigenetics

Full Citation:: de Vega WC, Vernon SD, McGowan PO. Identification of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome-associated DNA methylation patterns. PLOS ONE. 2018;13(7):e0201066. DOI:: 10.1371/journal.pone.0201066 Key Findings:: 17,296 differentially methylated CpG sites; 307 differentially methylated promoters; immune-related pathways.

Full Citation:: de Vega WC, Herber S, Ghaseminejad Tafreshi M, et al. Epigenetic modifications and glucocorticoid sensitivity in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS). BMC Medical Genomics. 2017;10(1):11. DOI:: 10.1186/s12920-017-0248-3

Full Citation:: Wang T, Yin J, Miller AH, Xiao C. Genetic risk factors for ME/CFS identified using combinatorial analysis. Journal of Translational Medicine. 2022;20:598. DOI:: 10.1186/s12967-022-03815-8 Key Findings:: 199 SNPs in 14 genes associated with 91% of ME/CFS cases.

Full Citation:: Dissecting the genetic complexity of myalgic encephalomyelitis/chronic fatigue syndrome via deep learning-powered genome analysis. Nature Communications. 2025. PMCID:: PMC12047926 Key Findings:: 115 ME/CFS-risk genes identified; intolerance to loss-of-function mutations.

Full Citation:: Trivedi MS, Oltra E, Engelbrecht B, et al. Recursive ensemble feature selection provides a robust mRNA expression signature for myalgic encephalomyelitis/chronic fatigue syndrome. Scientific Reports. 2021;11(1):4541. DOI:: 10.1038/s41598-021-83660-9