Genetic and Genomics Studies in ME

[Pyrrhus]

I thought I'd start a thread to collect together the various genetic and genomics studies in ME.

Please feel free to post any relevant genetics or genome studies.

 

[Pyrrhus]

Genetic Predisposition for Immune System, Hormone, and Metabolic Dysfunction in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Pilot Study (Perez et al., 2019)
https://forums.phoenixrising.me/thr...-me-cfs-a-pilot-study-perez-et-al-2019.76400/
A genomics pilot study from the team of Nancy Klimas and Lubov Nathanson, using 23andME data provided by patients.


Re-analysis of Genetic Risks for Chronic Fatigue Syndrome From 23andMe Data Finds Few Remain (Bedford and Tzvoras, 2021)
https://www.frontiersin.org/articles/10.3389/fped.2021.590040/full
A critical re-analysis of the above (Perez et al., 2019) pilot study finds problems.


Genetic risk factors of ME/CFS: a critical review (Dibble et al., 2020)
https://academic.oup.com/hmg/article/29/R1/R117/5879704
"Here we critically review existing evidence that genetic factors alter ME/CFS risk before concluding that most ME/CFS candidate gene associations are not replicated by the larger CFS cohort within the UK Biobank."


UK Biobank Genetic Study - Commentary from Decode ME (2021)
https://forums.phoenixrising.me/threads/uk-biobank-genetic-study-commentary-from-decode-me.85204/
An ambitious Genome-Wide Association Study (GWAS) called DecodeME, led by Dr. Chris Ponting, will seek to look at a very large number of patients to answer unresolved questions regarding possible genetic contributions to ME. Whereas DecodeME will focus on looking for common genetic variants, a separate study by the UK Biobank looked for uncommon genetic variants in self-reported CFS patients. DecodeME issues a commentary on the UK Biobank study. The UK Biobank study can be found here: https://www.nature.com/articles/s41586-021-03855-y

 

[Pyrrhus]

"Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset"
https://www.frontiersin.org/articles/10.3389/fimmu.2020.00578/full

Discussion:

Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset (Steiner et al., 2020)
https://forums.phoenixrising.me/thr...ated-with-me-cfs-with-infectious-onset.83625/

 

[Pyrrhus]

Association between chronic fatigue syndrome and the corticosteroid-binding globulin gene ALA SER224 polymorphism (Torpy et al., 2004)
https://forums.phoenixrising.me/thr...e-corticosteroid-binding-globulin-gene.32332/

 

[Pyrrhus]

Examination of Single Nucleotide Polymorphisms (SNPs) in Transient Receptor Potential (TRP) Ion Channels in Chronic Fatigue Syndrome Patients (Marshall-Gradisnik et al., 2015)
https://forums.phoenixrising.me/threads/ion-channel-snp-paper.37386/

 

[Pyrrhus]

Related discussion:

New study finds vast majority of diseases have only a very small genetic contribution of 5% to 10% at most (so much for 23andme testing)
https://forums.phoenixrising.me/thr...10-at-most-so-much-for-23andme-testing.80321/

 

[Pyrrhus]

Genetic association study in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) identifies several potential risk loci (Hajdarevic et al., 2022)
https://forums.phoenixrising.me/thr...al-potential-ris-hajdarevic-et-al-2022.87325/

In this study, we have analyzed three ME/CFS cohorts: a Norwegian discovery cohort (N=427), a Danish replication cohort (N=460) and a replication dataset from the UK biobank (N=2105). To the best of our knowledge, this is the first ME/CFS genome-wide association study of this magnitude incorporating 2532 patients for the genome-wide analyses and 460 patients for a targeted analysis. Even so, we did not find any ME/CFS risk loci displaying genome-wide significance.

 

[Consul]

Genetic Risk Factors for ME/CFS Identified using Combinatorial Analysis
https://www.medrxiv.org/content/10.1101/2022.09.09.22279773v1

 

[Consul]

Bioinformatics and systems biology approach to identify the pathogenetic link of Long COVID and Myalgic Encephalomyelitis/Chronic Fatigue Syndrome
Lv et al, 2022

https://www.frontiersin.org/articles/10.3389/fimmu.2022.952987/full

 

[Heron N]

The Major one I have is GS224 I havent gone through much of the rest of the genome as Im focusing on things I can treat first.

https://pubmed.ncbi.nlm.nih.gov/12003346/

its interesting that they mention red hair. I once tried to lighten my hair and it went bright red ( ginger) and I keep finding the odd red hair scattered in my beard and eyebrows. Ive found three upto now ( natural ) I have dark brown almost black hair.