Abstract
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a debilitating female-biased disease with neither diagnostic biomarker nor effective treatment nor well-understood aetiology.
To investigate its biological basis, we used TarGene to perform a genome-wide association study in...
The lead variant at this locus is 15:54866724:A:G (rs7165327) with a p-value of 7.62E-09. DecodeME labelled CCPG1 as a Tier 2 gene. The nearest protein coding genes are UNC13C (at 234,980 bp), and then RSL24D1 (at 314,073 bp).
Though rs7165327 was a significant DecodeME hit, none of the nearest...
Cluster analysis of ME/CFS symptoms in DecodeME reveals two subgroups and a link to onset type
St-Jean, Christa; Dibble, Joshua James; Ponting, Chris P; Prigge, Regina
Background
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a debilitating, often infection-triggered illness...
I had a go at matching genetic data on ME/CFS with the gene expression data from Dropviz.
This is the paper that discovered the eccentric medium spiny neuron (discussed here). It's a mouse brain atlas with RNA data from 0.69 million cells. The main publication is Saunders et al. 2018. but...
The 15th most significant locus in DecodeME is overlapping the gene DCC.
The lead variant at this locus is 18:53232948:C:T (rs72923287) with a p-value of 2.48x10-7.
GeneCards summary for DCC:
Full gene name: DCC Netrin 1 Receptor
"DCC" stands for "Deleted In Colorectal Carcinoma"
The...
"People with chronic fatigue have been misunderstood for decades: reputable researcher offers surprising advice to those struggling with the illness"
Sadly, the headline uses "chronic fatigue" but at least the subheading uses "chronic fatigue syndrome."
"Chronic fatigue syndrome has often been...
Abstract:
Background. Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) and irritable bowel syndrome (IBS) frequently co-occur following infection, yet shared genetic architecture at the locus level has not been systematically characterised. Aims. To estimate global and local genetic...
I am interested in the relationship of two ME/CFS research programs :
1. Chris Ponting et al.'s work on DecodeME. See paper and discussion
Advantages:
Large sample
As a genetic study, can uncover causal biology.
Disadvantages:
While more precisely specified than most ME/CFS cohorts...
Eccentric medium spiny neuron (eMSN) sometimes called eccentric spiny projection neurons (eSPNs) is the cell type that came up in Paolo Maccallini’s genetic analysis for ME/CFS. He used a meta-anaysis of DecodeME and the Million Veteran Program (Neff = 74,219). Using a tool called MAGMA, Paolo...
The locus near SHISA6 wasn't quite genome-wide significant, but it was close at p=8.26e-08.
From GeneCards:
Here is a plot of this locus (LocusZoom link):
Edit: The lead variant at this locus is: 17:11,325,637:G:C / rs1546559
Insights into Pathophysiological Pathways in ME/CFS Through Genetic Correlation and Mendelian Randomization
Abstract
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) and post-acute infection syndromes (PAIS) are multisystem disorders involving immune, vascular, neuroinflammatory...
DHCR7 Mutation Carriers and Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: No Associations According to DecodeME Data
Abstract
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a debilitating multi-system disorder whose pathogenesis is associated with metabolic and immune...
Systematic Examination of Gene Expression and Proteomic Evidence Across Tissues Supports the Role of Mitochondrial Dysregulation in ME/CFS
Abstract
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a chronic, multisystem disease characterized by post-exertional malaise and...
I didn’t see a thread about SOX6, apologies if I missed it
SOX6 seems interesting as it is not only a peak in LocusZoom itself but also a Transcription Factor Binding Site mentioned in Genehancer data for promoters and enhancers for many (well most) other genes in the DecodeME candidate gene...
Hi all,
Something that has been in the back of my head since the DecodeME data was released was running the newer FLAMES analysis:
https://github.com/Marijn-Schipper/FLAMES
Somewhat discussed here...
Now published, see post #74.
Identification of Novel Reproducible Combinatorial Genetic Risk Factors for Myalgic Encephalomyelitis in the DecodeME Patient Cohort and Commonalities with Long COVID
BACKGROUND
Myalgic encephalomyelitis (also known as ME/CFS or simply ME) has severely impacted...
These are the main candidate genes suggested by the data from the DecodeME study based on different methods: Tier 1 and 2 genes as defined by the DecodeME paper, significant genes using MAGMA test, and the nearest genes to the top 25 most significant loci.
I posted the same information on the...
I wanted to make a thread to discuss the theory that ME/CFS is a signaling problem, located in the synapses of neurons in the brain. I think it fits and would help explain the few findings and observations that we have about the illness.
The clinical picture
First of all, there is no clear...
Coming back up out of the detail we could really do with leveraging the Decode ME and other recent findings and working out a research roadmap which we could perhaps refine at the showcase event to develop the what next plan?
Someone on the initial findings thread suggested developing a list of...
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