CDC Study Finds Evidence of Unusual Forms of Immune Genes in Chronic Fatigue Syndrome


Founder of Health Rising and Phoenix Rising
Staff member
Large CDC study suggests that genetic alterations in innate immune system genes may set people up for ME/CFS. Interestingly, the study highlighted complement genes. Complement upregulation was associated with exercise in a prior CDC study. Because the innate immune system drives inflammation this study supports the idea that inflammation may be a key player. The downside of the study is that they used the Empirical definition and a randomized population survey in this study so it was probably a CFS-lite group. Still the finding fits what we know.

Hum Immunol. 2015 Jun 24. pii: S0198-8859(15)00180-9. doi: 10.1016/j.humimm.2015.06.014. [Epub ahead of print] Pathway-Focused Genetic Evaluation of Immune and Inflammation Related Genes with Chronic Fatigue Syndrome. Rajeevan MS1, Dimulescu I2, Murray J2, Falkenberg VR2, Unger ER2. Author information


Recent evidence suggests immune and inflammatory alterations are important in chronic fatigue syndrome (CFS). This study was done to explore the association of functionally important genetic variants in inflammation and immune pathways with CFS.

CFS was associated with 32 functionally important SNPs: 11 missense variants, 4 synonymous variants, 11 untranslated regulatory region (UTR) variants and 6 intronic variants.

Some of these SNPs were in genes within pathways related to complement cascade (SERPINA5, CFB, CFH, MASP1 and C6), chemokines (CXCL16, CCR4, CCL27), cytokine signaling (IL18, IL17B, IL2RB), and toll-like receptor signaling (TIRAP, IRAK4).

Of particular interest is association of CFS with two missense variants in genes of complement activation, rs4151667 (L9H) in CFB and rs1061170 (Y402H) in CFH. A 5'UTR polymorphism (rs11214105) in IL18 also associated with physical fatigue, body pain and score for CFS case defining symptoms.

This study identified new associations of CFS with genetic variants in pathways including complement activation providing additional support for altered innate immune response in CFS. Additional studies are needed to validate the findings of this exploratory study.

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