I found sort of found an answer to this question in supplementary table S3. They actually mapped
GRCh38 variant 13:53194927-GT-G rs35306732
to
GRCh37 variant 13:53750354:A:G rs1923773(P) (I assume this is original as array data should be decoded to GRCh37).
However that SNP (rs1923773)...
@Chris Ponting Would you be kind enough to help us interpret the MAGMA analysis paragraph in the paper (discussion in above post).
Are the 13 genes in table S4 found from gene based analysis only and then tested for tissue, or is the list a gene-tissue enrichment analysis presented as a gene...
These were the ME/CFS enriched genes in brain tissue from table S4.
LRRC7
STAU1
CSE1L
DARS2
ZBTB37
TAOK3
ARFGEF2
DNAH10OS
ZNF664
CCDC92
HIST1H4H
ZNF311
SUDS3
From paper
Here is the press release from Cornell that Dr Hanson posted on X.
https://news.cornell.edu/stories/2025/08/researchers-identify-key-biomarkers-chronic-fatigue-syndrome
I asked AI how down regulation of the two genes could play a role. I thought this particular response was interesting, that is it could be a protective mechanism that contributes to disease.
I understand. I just expected to see something in the methods to explain what they did. I could find no mention of the remapping the genomic location from hg19 to hg38 in the text using a search and a quick read of the relevant sections in methods.The methods are very detailed. Perhaps I missed...
I saw no mention of it when I scanned the Supplementary Methods section. They did go through the control data and remove any hint of people with ME/CFS in addition to those labelled as CFS. LINK
Thanks for the link. That database was generated from the WGS database according to the about page. LINK
The Supplementary Methods doc states this which might be a clue.
So the control data QA sweep used GnomAD (v2.1.1) which is an hg19 reference. But the DecodeME paper references hg38 locations?
For reference the p-value for CFS in the UK Biobank for rs78375762 is 0.26 (Male + female)
http://geneatlas.roslin.ed.ac.uk/search/?traits=615&variants=rs78375762
It's puzzling why we can't find matches between the variants in the two sets of data. i wouldn't have expected to find multiple missing data in only a couple of variants we have spot checked for comparison..
I have a question about the gene sequencing reference used in the study. I thought the GRCh37 (hg19) reference was used to interpret the GWAS gene array data in the original UK Biobank work. The DecodeME study uses the same technology so that comparison to the original data for controls is...
Copy of post from @DMissa of main thread of the paper for this gene:
Patient muscle homogenates or isolated mitochondria showed variably decreased activities of the mitochondrial respiratory chain complexes as well as decreased mtDNA content. Cultured skin fibroblasts had reduced maximal oxygen...
Copy of @chillier post to add info to this thread from main thread of the paper for this gene:
Loss of function causes excess culling of mitochondria leading to mitochondrial DNA depletion syndrome or mitochondrial encephalopathy. This reminded me of something from Josh Dibble's 2020 review...
I thought this we interesting. Schwann cells are very important for repair of nerves.
Article : Brown Fat Secretes OLFM4 to Guide Nerve Cells
Paper : Brown adipose tissue secretes OLFM4 to coordinate sensory and sympathetic innervation via Schwann cells
I asked AI about the 8 top gene findings and neurons. An interesting link showed up with OLFM4
Neurodevelopment and Synaptic Function:
OLFM4 plays an important role in neurodevelopment and synaptic function. Specifically, research suggests that it may be involved in regulating the number of...
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