Some more studies here
https://s4me.info/threads/abnormalities-in-response-to-vasopressin-infusion-in-chronic-fatigue-syndrome-2001-altemus-et-al.48566/post-676043
1) We’ve written a new article about the spectacular progress in artificial intelligence (AI), the billions that AI companies are investing to transform drug discovery, and why this is a reason for hope for ME/CFS patients.
https://mecfsscience.org/the-ai-revolution/
Here's a brief summary...
That's what I used. I suspect the results could come from one of the enhancers here such as EH38E3437846. It points to T-cell but the z-score didn't really stood out (< 3) in my analysis.
Thought this was an interesting aspect of NEGR1. It reminded me of ARFGEF2 bringing GABA-A receptors to the cell surface.
Source: Neuronal growth regulator 1 (NEGR1) promotes synaptic targeting of glutamic acid decarboxylase 65 (GAD65) | bioRxiv
My analysis didn't reveal much in this region. The credible set was large with 385 SNPs.
The eQTL didn't show any gene expression dataset with a similar signal (coloc PP.H4 > 0.8). The closest signal was a weak one for NEGR1 in the esophagus GTEx_v10 dataset (PP.H4 = 0.62, p-value 0.000039)...
The FLAMES algorithm predicted MMS22L for this region with high confidence. But I think it's because FLAMES is restricted to a 750 kb window (filter = 7500000 in this file) so it didn't consider other genes such as POU3F2. It probably only saw MMS22L in the 750 kb window and gave it a high score...
Distance is usually measured to the transcription start site (TSS) of a gene, the place where the reading starts. Both genes are read in the <- direction so they are read from right to left and the TSS is on the right side of the gene.
For NEGR1 the TSS is 72,282,539
For LRRIQ3 the TSS is...
Some other relevant studies:
Spacing and orientation of bipartite DNA-binding motifs as potential functional determinants for POU domain factors - PubMed
A requirement for the POU transcription factor, Brn-2, in corticotropin-releasing hormone expression in a neuronal cell line - PubMed
The...
Anyone has the full text of this paper?
Roles of POU3F2 in Brain Development and Neuropsychiatric Disorders
Roles of POU3F2 in Brain Development and Neuropsychiatric Disorders - Liu - 2026 - Developmental Neurobiology - Wiley Online Library
The prioritzation of FBXL4 in the preprint seems to be mostly based on it being the closest gene. But it is not really close and the 3D chromatin data suggested a link with POU3F2 which is also the strongest brain-based protein coding gene nearby.
So my guess for this locus is that it points to...
Here are the results of my brief analysis of this locus (there's more about my methods and approach in the chr20 locus).
Credible set
This region also had one credible set of 86 SNPs over a 180 kb. It’s in a gene desert, far removed from protein coding genes but lies in a long non-coding RNA...
New breakthroughs on:
Local smoothing and the Kakeya conjecture
The Exponential Time Hypothesis is talse
Existence of quantum chromodynamics and completions of the Standard Model
Working with academic communities to build scientific understanding | OpenAI
Would be interesting in hearing...
I had a closer look at this locus using the methods I previously applied to chr20 and other loci. No breakthrough unfortunately, but I’m sharing my results in case they are useful to others.
Finemapping
Finemapping the locus with SUSIE gave one credible set with 92 SNPs. But ca. 80% of the...
I agree that there's a lot of uncertainty in the chromatin and histone mark data (the databases are still too small and don't cover enough situations and context), but genetics mostly point to risk factors. So it's about how you get ill when you don't have ME/CFS yet. And these genetic hits all...
I think the gut diseases like IBS are interesting because CA10 isn’t expressed in the gastrointestinal tract. So that likely points to the specific neurons linked to the stomach and gut being involved in these diseases through CA10 (over?)expression. On the other hand, it’s interesting that...
Predictions
The AlphaGenome gave no valuable results or insights.
eQTL
Also, no real matches in the eQTL datasets. The best I found for CA10 was a weak signal in serotonergic neurons (PP.H4 = 0.365, lowest p = 1.7e-3). It does give some info about the direction of effect. If this signal is to...
I did the same analysis as for the chr20 region. Finemapping with Susie gave a credible set with 64 SNPs that is hard to reduce to a smaller number: the probability is spread out across these SNPs. CA10 is the only protein-coding gene nearby but a lncRNA called ENSG00000310017 falls inside our...
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