Genome-wide meta-analysis identifies genetic risk loci for mono- and polyneuropathies in 983 477 individuals
Peripheral neuropathies are common neurological disorders affecting sensory, autonomic, and motor nerves, with an estimated prevalence exceeding 2% in the general population. Typical...
...effect (mean −3.47 y, P = 1.7 × 10−18) showed no heterogeneity across ethnic groups and was independent of common allelic variation at HLA-DQA1 in cis of HLA-DQB1*03:01 (DQA1*03:03; DQA1*05:05; DQA1*06:01).
This effect may be due to a peptide being presented by all DQ0301 heterodimers (which...
...paper the HLA data comes from, which happened before DecodeME, but the text says the title of the thread's paper.
Anyway, it looks like the reason they didn't genotype HLA-DQA1 and other loci is that for data on healthy controls, they used the results of an existing study which didn't test...
...II HLA allele (HLADQA1*05:01) was associated with ME/CFS at genome-wide significance (p = 1.4 x 10-10; Fig. S7; Table S7). The frequency of HLA-DQA1*05:01 among cases (21.7%) was lower than among controls (23.2%) and so is predicted to protect against ME/CFS." ("Human leukocyte antigen...
It probably doesn't mean anything. HLA-DQA1 is a highly variable region. Everyone would have pothentially pathogenic variants according to variant effect prediction tools. These tools are made for analyzing "normal" genes. Some of them could affect the risk of ME/CFS but there is no way of knowing.
Its interesting to see this after the DecodeME HLA-DQ link. I think JE said yesterday that F&M and maybe Wessely (bleurgh) also found a DQ link before that.
My layman understanding:
One allele, HLA-DQA1*05:01, was significantly associated with ME/CFS.
Its frequency was lower in cases (21.7%) compared to controls (23.2%) (the finding held even when they restricted analysis to a genetically more uniform group).
The association was very statistically...
I just found this on the HLA DQ wiki page - T Cells and graft vs host mentioned as well as autoimmunity. Seems potentially relevant if accurate.
https://en.m.wikipedia.org/wiki/HLA-DQ
The DQA1 page is interesting as well...
@richie this is a GPT5 answer to your question:
This is the analyse of the whole paper by the new GPT5 (hallucination is meant to be very low for health now with this model), is there anything new here?
This is the view of a customGPT I created:
Pathway-to-patient map (compressed view)
4...
The DecodeME paper says, in a couple of places, that they imputed HLA alleles.
It seems that that is standard practice, because identifying them directly is very difficult. The presence of an HLA allele is imputed using an algorithm that works off nearby SNPs that are in linkage disequilibrium...
There will be a new analysis much sooner than that. I think what they have to do is to run the HLA imputation cases and controls at the same time (on the super computer, that is). , But that is not official – just that they are going to analyse it again
I’m referring to the one in the title, based on the link in the first comment I wrote.
@jnmaciuch said that the allele is protective. And the page I linked said that the HØA-DQA1 genes are involved in getting MHC class II cells to pick up and present the right proteins to the other immune...
If I’ve found the correct gene here, I’ve got a few thoughts.
If the proteins that are supposed to pick up foreign proteins and present them to T cells, actually function worse in ME/CFS, could it be that this makes them more prone to pick up junk and try to present the junk to T cells?
If you...
Interesting given they didn’t actually measure DQA1*05:01
As far as I understand they inferred its value by imputation (using linkage disequilibrium) which is ever more interesting and confusing given it didn’t return the expected associations with other linkages.
I hope we will get some...
I noticed that the HLA-region also got a significant finding (HLA-DQA1*05:01 at p = 1.4 x 10-10 but that it somehow reported separately form the other 8 hits. It seems to be a different SNP than what the Norwegians found but perhaps this is due to HLA being difficult to sequence?
...experiencing chronic pain. It might explain why pain is such a common symptom in ME/CFS.
15) The HLA-region also got a significant result (HLA-DQA1*05:01). This region is important in differentiating your own body's cells from invaders like viruses or bacteria.
Many autoimmune diseases have...
...involved in SARS-CoV2 entry (ACE2 [rs190509934] and TMPRSS2 [rs12329760]), as well as variants of DPP9 (rs7251000), FOXP4 (rs12660421) and HLA-DQA1 (rs17219281), exhibiting associations with severe COVID-19 but displaying weaker signals in non-hospitalized COVID-19 cases;
(2) SNPs associated...
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