This study is helpful because they compiled transcriptomics and proteomics results from several studies into one file, Supplementary File S2. It makes it easier to cross-check expression findings in older studies in the future.
For example, here are the differentially expressed proteins for...
This paper seems to show the same data for CFS, but without the inclusion of autism data:
NeuroSPECT Findings in Children with Chronic Fatigue Syndrome
Goldberg, Michael J.; Mena, Ismael; Darcourt, Jacques
Abstract
Background
NeuroSPECT studies have described specific abnormalities in...
It's hard to tell which parts of this are based on significance testing and which are just saying the direction of effect. For example:
They looked at 10 genes that were significant in a previous study. Of the 8 genes that were also detected here, they reported downregulation and upregulation...
Some selected quotes from the treatment section:
This is the review he cited as evidence for this slide (link goes to S4ME thread): Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Comprehensive Review (2019. MDPI Diagnostics. Rivera, Lidbury, et al.)
Sanil Rege has a YouTube channel with 160k subscribers. Here are some of his videos on ME/CFS:
Chronic Fatigue Syndrome and ME Simplified - How to Diagnose and Treat CFS | A Psychiatrist Explains
The Hidden Link in Chronic Fatigue, Long Covid, and POTS: A Deep Dive into the Role of the Brain...
A note was added yesterday, confirming that this case report is fictional: https://academic.oup.com/pch/advance-article-abstract/doi/10.1093/pch/pxag013/8494249
For people newly diagnosed, it'd be good if they or their caregivers got some really good understandable information about what ME/CFS is and where the science is.
Basically, a patient should be able to quickly learn the things in the S4ME fact sheets, and not have to spend years with...
As far as I can tell, 23andMe reports based on the positive strand, and on the positive strand at this location, T is the common allele and C is the minor allele.
Can you please explain how you determined that T is the minor allele or codes for valine?
We have a thread for that paper here: https://www.s4me.info/threads/development-and-validation-of-blood-based-diagnostic-biomarkers-for-me-cfs-using-episwitch%C2%AE%E2%80%A6-2025-hunter-et-al-oxford-biodynamics.46510/
Hopefully if and when it gets peer-reviewed, someone will ask that it be explicitly specified. But it seems to me the paper is saying the variant she has causes valine to be substituted into the gene.
The C allele causes a valine substitution. T leads to the gene having isoleucine instead...
I think that reference genomes are assembled from bits and pieces of genetic code of different people. So if those people have the minor allele, that's what gets included in the reference. Looking at DecodeME's Table 3, two of the eight lead SNPs are like this, where the reference allele is the...
11 or 12% is the frequency of the allele. Everyone has two alleles. So out of all the alleles in a population (twice the population), how many are C? That's the allele frequency.
The proportion of people who have two copies of the minor allele is fairly rare - around 1%.
Online calculator for...
I might be missing something, but I think it's wrong. If it's talking about what bases would be seen on the reverse strand, the minor allele C would swap to G, as it says, but the common allele T would not correspond to C, it would swap to A.
Checking the DecodeME summary stats:
So the minor allele, C, is the risk allele, consistent with the case report. The p-value is 0.038, which is not very strong evidence, though.
Maybe this is a recessive variant, in which case there would be no effect if there was only one copy of C, and it...
I think it could potentially be inferred from the text:
It appears that the paper is saying that the patient's problem is consistent with overactivity of the mineralocorticoid receptor (MR). It also says that the variant that causes a valine substitution causes overactivity of the receptor...
Most likely, she has two copies of the minor allele, C, though I don't see her explicitly say that. The T allele is very common.
rs5522 on dbSNP - See the row for European in the Allele Frequency table:
C=0.110877 A=0.000000, T=0.889123
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