Now published:
Pathogenic IgG from long COVID patients with neurological sequelae triggers sensitive but not cognitive impairments upon transfer into mice
Abstract
Approximately 30% of long COVID patients still experience neurological symptoms (brain fog, pain, chronic fatigue) more than 4...
Now published:
Symptom clusters in ME/CFS reflect distinct neuroimmune and autonomic pathophysiological mechanisms: a translational model
Habermann-Horstmeier, Lotte; Horstmeier, Lukas M.
Background
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a debilitating multisystem...
The GTEx project which is a very large study (in terms of funding and influence, but also sample size) meant to determine which variants are associated with gene expression. So probably fairly reliable.
It looks like that most significant result for BTN2A1 is based on the "raredmgmtr" model, which is defined as including variants that are:
The REVEL paper says:
So I'm not sure these variants are necessarily making the protein less functional. I would think that a missense variant could make...
DecodeME. They tested whether there is a shared variant that is both associated with ME/CFS and with BTN2A2 expression. It's described in the candidate genes document.
Another finding:
Yes, and there are more possibilities than just increased/decreased expression. A variant might slightly...
It's a significant variant on chromosome 6 with many genes in the area, so we can't be sure yet which gene it affects. DecodeME did not detect that the ME/CFS variant also affects expression of BTN2A1. (Though the risk allele was associated with decreased expression of BTN2A2.)
That study...
It's mendelian randomization based, so they're doing something like looking at SNPs associated with expression of BTN2A1, and looking at the associations of those SNPs with disease in a different cohort to see if expression of the gene may be causal for the disease. And they found that increased...
Visual Dysfunction in Chronic Fatigue Syndrome
Lesley J. Vedelago
Abstract
The characteristics, and visual and ocular signs and symptoms, of 141 patients with chronic fatigue syndrome referred for optometric assessment are reported. Visual problems of CFS patients are discussed, as well as a...
Some more genes to ponder about.
I also downloaded the "Gene-level results (cnv001-snv)" file ("CNVs with site frequency < 0.01 with protein-truncating SNVs"), which looks at copy number variants as well as single nucleotide variants which prevent the whole gene from being transcribed.
Here...
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...
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