genetics

Many disease-associated variants are thought to be regulatory but are not present in existing catalogues of expression quantitative trait loci (eQTL). We hypothesise that these variants may regulate expression in specific biological contexts, such as stimulated immune cells. Here, we used human...

Identification and Validation of Novel Combinatorial Genetic Risk Factors for Endometriosis across Multiple UK and US Patient Cohorts JM Sardell, S Das, GL Møller, M Sanna, K Chocian, K Taylor, AR Malinowski, C Stubberfield, A Rochlin, S Gardner Background Endometriosis affects about 10% of...

GWAS highlights the neuronal contribution to multiple sclerosis susceptibility https://pmc.ncbi.nlm.nih.gov/articles/PMC11643295/ Multiple Sclerosis (MS) is a chronic inflammatory and neurodegenerative disease affecting the brain and spinal cord. Genetic studies have identified many risk loci...

Abstract Inherited deficiency of zinc finger NFX1-type containing 1 (ZNFX1), a dsRNA virus sensor, is associated with severe familial immunodeficiency, multisystem inflammatory disease, increased susceptibility to viruses, and early mortality. However, limited treatments for patients with...

HLA-DQA*05:01 Potential association from DecodeME:

DecodeME candidate ME gene From the Candidate Genes document CHROMOSOME 6p Chr6p contained seven Tier 1 genes. ******************** HFE (Tier 1) • Protein: Homeostatic iron regulator protein. UniProt. GeneCards. The allele that increases the risk of ME/CFS is associated with increasing HFE...

DecodeME candidate ME gene From the Candidate Genes document CHROMOSOME 20 Chr20 contained seven Tier 1 genes. *************** CSE1L (Tier 1) • Protein: Chromosome segregation 1-like (also known as exportin-2). UniProt. GeneCards. The allele that increases the risk of ME/CFS is associated...

DecodeME candidate ME gene From the Candidate Genes document CHROMOSOME 17 Chr17 contained one Tier 1 gene. **************** CA10 (Tier 1) • Protein: Carbonic anhydrase-related protein 10. UniProt. GeneCards. Note that this gene encodes a protein that lacks catalytic activity. The allele...

DecodeMe Candidate Gene CHROMOSOME 15 Chr15 contained no Tier 1 genes and one Tier 2 gene. ********************* CCPG1 (Tier 2) • Protein: Cell cycle progression 1. UniProt. GeneCards. • Molecular function: Involved in positive regulation of cell cycle and positive regulation of cell...

DecodeMe Candidate Gene CHROMOSOME 13 Chr13 contained no Tier 1 genes and one Tier 2 gene. ******************** OLFM4 (Tier 2) • Protein: Olfactomedin-4. UniProt. GeneCards. • Molecular function: OLFM4 facilitates cell adhesion, most probably through interaction with cell surface lectins...

DecodeMe Candidate Gene CHROMOSOME 12 (GWAS-2) Chr12 contained three Tier 1 genes. ******************** SUDS3 (Tier 1) • Protein: SIN3A corepressor complex component, also known as SDS3. UniProt. GeneCards. The allele that increases the risk of ME/CFS is associated with increased SUDS3...

DecodeME candidate ME/CFS gene ******************** FBXL4 (Tier 2) • Protein: F-box/LRR-repeat protein 4. UniProt. GeneCards. • Molecular function: Component of the mitochondria-localised SCF-FBXL4 ubiquitin E3 ligase complex. This complex restricts mitophagy by controlling the degradation...

DecodeME candidate ME/CFS gene CHROMOSOME 6p Chr6p contained seven Tier 1 genes. *************************** BTN2A2 (Tier 1) • Protein: Butyrophilin subfamily 2 member A2. UniProt. GeneCards. The allele that increases the risk of ME/CFS is associated with decreasing BTN2A2 gene expression...

From DecodeME Candidate Genes: RABGAP1L (Tier 1) • Protein: RAB GTPase-activating protein 1-like, also known as TBC1D18. UniProt. GeneCards. The allele that increases the risk of ME/CFS is associated with decreasing RABGAP1L gene expression. • Molecular function: GTP-hydrolysis activating...

https://www.news-medical.net/news/20250729/Genetic-profiling-offers-hope-for-understanding-multiple-sclerosis-risk.aspx

Title: Multi-omic insights from a multi-ancestry genome-wide meta-analysis of ankylosing spondylitis reveal novel pathways of disease susceptibility Authors: Matthew Brown, Zhixiu Li, Xin Wu, Nicholas Harvey, Jose Garrido-Mesa, Xiaobing Wang, Zhihao Xu, Geng Wang, Helena Marzo-Ortega, Dennis...

For the past month or so I've been working on a project. It's a website for logging genes that were significant from studies on ME/CFS, meant to make it easier to compare genes that are replicated in multiple studies. You can take a look at https://sickgenes.xyz Screenshot: In essence, it's...

Evidence for a heritable predisposition to Chronic Fatigue Syndrome Albright, Frederick; Light, Kathleen; Light, Alan; Bateman, Lucinda; Cannon-Albright, Lisa A Chronic Fatigue Syndrome (CFS) came to attention in the 1980s, but initial investigations did not find organic causes. Now decades...

Hi everyone, I’m a a male in my 30s with ME/CFS (diagnosed in 2012 using ICC criteria), now mostly housebound with severe post-exertional malaise (PEM), disabling muscle pain and cramps (especially in the thighs), and profound fatigue. After years of inconclusive testing, I recently did whole...

Abstract: Background/Objectives: The aetiology of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), a chronic and severe debilitating disease with a complex phenotype, remains elusive. Associations with infectious diseases and autoimmune and neuropsychiatric disorders have been...