That the finding probably isn't consistent in all people with SSRD (maybe different underlying reasons for getting the diagnosis in the other cohort), if it's a meaningful finding at all.
Edit: Or it's a very tiny effect that the smaller sample size couldn't detect.
Or maybe there is a lot of heterogeneity, but they identified a gene responsible for only a subgroup. With such a large sample size (22k), that might have been enough to get significance for a gene related to only a portion of these people's diagnosis.
But they got a genome wide significant hit. Maybe it's because the gene makes people seek out FND practitioners or participate in studies or some other non-interesting reason. Or maybe the people who get FND/SSRD diagnoses do have some biological causal factor in common, even with the diverse...
What specifically is the concern? You'd agree that the FND group is likely sicker on average than the healthy group, right? If a gene was significantly associated with being in the unhealthy group, then there's a good chance it's causal for being in that group.
GeneCards:
CYP7B1
BHLHE22
CBLN1
CYP7B1 (the main SNP from this study maps to this gene) was previously flagged by @mariovitali:
One person out of twenty from this study had a likely pathogenic variant in the same gene (Supplementary Table 1):
A network medicine approach to investigating...
Genome-wide study of somatic symptom and related disorders identifies novel genomic loci and map genetic architecture
[Line breaks added]
Abstract
Somatic symptom and related disorders (SSRD) are characterized by a mixture of neurological and psychiatric features and include functional...
The AI translations on the non-English songs are probably the best I can get without speaking the language myself, but if any native speakers ever want to correct any parts of the translated lyrics for these songs, I will make the edits.
No need to do everything at once. If there's a study that's central to the hypothesis, you can make a thread for just that one to start. Normally we don't add any color commentary in the first post either, just the abstract, so you don't have to add comments immediately either. Maybe others will...
Nature: 'One potent gene raises risk of Alzheimer’s, Parkinson’s and other brain diseases'
'Massive proteomics database links gene variant APOE4 to chronic inflammation.'
'A gene variant known to increase the risk of Alzheimer’s disease also makes people vulnerable to a host of other...
APOE ε4 carriers share immune-related proteomic changes across neurodegenerative diseases
Artur Shvetcov, Erik C. B. Johnson, Laura M. Winchester, Keenan A. Walker, Heather M. Wilkins, Terri G. Thompson, Jeffrey D. Rothstein, Varsha Krish, Farhad B. Imam, The Global Neurodegeneration Proteomics...
Oh yeah, I'm familiar. I don't think I have an issue with just making the code public immediately.
Thanks for the suggestion! Maybe I'll reach out once I have at least like a couple hundred studies saved.
Yeah, I might do that. This is the first somewhat complete coding project I've done, and I've never collaborated with others in coding, so I'm not sure how that would go. I imagine people who are much more experienced than me sending PRs that I can't understand at all, so I'd be nervous about...
You quoted this related part, but I want to highlight it:
Control group started off with a significantly higher energy level as measured by RAND-36:
And the effect on the primary fatigue outcome was negligible:
That might be the best way to go. I guess I was thinking if a study reports that 5 genes are really interesting and have really big effect sizes, but 4000 total are significant, then including all 4000 really waters down the information from the small number that are really interesting.
I...
Yeah, that's one use case: quickly find if and where a gene was significant and how often. You could see whether this is a new finding, in which case it might just be chance, or if it's been significant ten times already, in which case it might make sense to dig into this finding specifically...
I see, thanks. So the DNA is a bit looser or denser near these genes in ME/CFS is I think what I'm getting. That's a type of finding I'd never seen before. But I think it makes sense to add along with mutations and abundance since it's a finding that is different from controls and refers to a...
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