From the page linked above, I downloaded the cnv-all gene-level results for European/NFE binary phenotypes.
Here are the most significant genes based on frequency of copy number variants in the gene in cases vs controls for the phenotype "120010#Ever had chronic Fatigue Syndrome or Myalgic...
I've placed this in ME/CFS Research, because the ME/CFS phenotype was one of the many UK BioBank phenotypes tested in this study for copy number variants.
Nightsong pointed out that there might be some interesting data to explore from this study:
Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes
Abstract
Copy number variants (CNVs) are key drivers of human diversity and disease risk1. Here we evaluate the role of CNVs across a broad range of human phenotypes and diseases by analysing CNVs from 470,727 UK...
I still wonder if an association with proteins directly involved in antigen presentation like BTN2A1 would be conferring risk mostly just through increased susceptibility to infection. Maybe that can be probed in other studies.
Also, I may have come across too excited about the BTN2A1...
That's near the BTN2A1 locus for lupus and ME/CFS (not all genes shown). The ME/CFS locus is a little red hill on the left near the value 26.
It seems that for lupus, the main thing here is a gene farther to the right. Maybe an HLA gene. Though it's possible the BTN genes are also contributing...
Cardiopulmonary Exercise Testing Reveals Functional Limitations and Work Disability in Severe Post-COVID-19 and ME/CFS Patients
Background
Patients severely affected by post-COVID-19 condition (PCC) and myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) often experience long-term...
Wow, B2N2A1 was the most significant gene out of around 17,000 genes. That's pretty compelling considering the DecodeME association, as you say.
These are the criteria for included variants for this gene's result:
Edit: I was mistaken about the 17,000 number specifically since it includes...
Understanding Psychological Distress in CFS/ME: The Roles of Functionality Appreciation, Body Appreciation, and Illness-Related Shame
Geller, Shulamit; Levy, Sigal; Avitsur, Ronit
Background
Chronic fatigue syndrome/Myalgic encephalomyelitis (CFS/ME) is a debilitating chronic condition that...
Most of these are just updating the estimated study start date, increasing it by one day each time (last update). It's very odd. I wonder if an automated system has gone rogue.
Is it possible the MRS isn't very precise and gets some of the cells lining the ventricles, and that's where lactate is high? Other studies seem to show high lactate in non-ventricle regions, such as anterior cingulate cortex in Godlewska 2025
Looking at this ventricle paper, Shungu 2012, the...
I think the intracellular/extracellular point above may be wrong. Most of the MRS studies are on ventricular spaces. Doesn't the fluid in the ventricles contain very few cells? It's more or less the same fluid as CSF in a spinal tap, right?
Edit: added quote
Nice detective work @ScoutB. One thing is that I think CSF represents a different compartment from what is being measured with MR spectroscopy.
I don't know much about the specifics. I asked a researcher a while ago about this, who said MRS is primarily measuring intracellular lactate, while...
Since high lactate in the brain in ME/CFS seems to be a finding that keeps coming up, I'll link those papers here. Titles link to threads for papers where we have a thread.
Ventricular cerebrospinal fluid lactate is increased in chronic fatigue syndrome compared with generalized anxiety...
For some reason, CA10 comes up multiple times in selection analysis of various livestock. Though I have very little understanding of what these results mean. There's the above paper on Anxi cattle, and here are three more on other animals:
Edit: There's always the possibility that thousands...
This makes me wonder if in the future, it might be good to do a larger GWAS that includes both ME/CFS and IBS cases, as this might help pinpoint the common factors that make people susceptible to both conditions, with the benefit of larger sample size as well.
Same thing for ME/CFS and chronic...
For SHISA6, the lead SNP for IBS in this study is actually the same as the lead SNP for ME/CFS in DecodeME, so I think there's a very good chance it's the same causal variant.
Zoomed in plot for DecodeME:
42.6% of the DecodeME cohort reported IBS, so it makes sense that there are some genetic...
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