Autoimmunity-related risk variants in PTPN22 and CTLA4 are associated with ME/CFS with infectious onset, by Sophie Steiner, Sonya C Becker, Jelka Hartwig, Franziska Sotzny, Sebastian Lorenz, Sandra Bauer, Madlen Löbel, Anna B Stittrich, Patricia Grabowski and Carmen Scheibenbogen in Front. Immunol., 09 April 2020[]


Research abstract:

SNP model by David Eccles, Wiki commons

Single nucleotide polymorphisms (SNP) in various genes have been described to be associated with susceptibility to autoimmune disease.

In this study, myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) patients and controls were genotyped for five immune gene SNPs in tyrosine phosphatase non-receptor type 22 (PTPN22, rs2476601), cytotoxic T-lymphocyte-associated protein 4 (CTLA4, rs3087243), tumor necrosis factor (TNF, rs1800629 and rs1799724), and interferon regulatory factor 5 (IRF5, rs3807306), which are among the most important risk variants for autoimmune diseases.

Analysis of 305 ME/CFS patients and 201 healthy controls showed significant associations of the PTPN22 rs2476601 and CTLA4 rs3087243 autoimmunity-risk alleles with ME/CFS. The associations were only found in ME/CFS patients, who reported an acute onset of disease with an infection (PTPN22 rs2476601: OR 1.63, CI 1.04–2.55, p = 0.016; CTLA4 rs3087243: OR 1.53, CI 1.17–2.03, p = 0.001), but not in ME/CFS patients without infection-triggered onset (PTPN22 rs2476601: OR 1.09, CI 0.56–2.14, p = 0.398; CTLA4 rs3087243: OR 0.89, CI 0.61–1.30, p = 0.268).

This finding provides evidence that autoimmunity might play a role in ME/CFS with an infection-triggered onset. Both genes play a key role in regulating B and T cell activation.

Meet The Researchers: Carmen Scheibenbogen


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