genetics

Abstract Irritable bowel syndrome (IBS) results from disordered brain–gut interactions. Identifying susceptibility genes could highlight the underlying pathophysiological mechanisms. We designed a digestive health questionnaire for UK Biobank and combined identified cases with IBS with...

Quote: An innovative type of medicine - called gene silencing - is set to be used on the NHS for people who live in crippling pain. The drug treats acute intermittent porphyria, which runs in families and can leave people unable to work or have a normal life. Clinical trials have shown severe...

As people may have heard in the news, a new study launched yesterday called Spectrum10k. I thought I'd post it here in case any of our autistic members had missed it. Headline description Spectrum 10K aims to investigate the genetic and environmental factors that contribute to autism and...

Full title: Fine mapping of the major histocompatibility complex (MHC) in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) suggests involvement of both HLA class I and class II loci Abstract The etiology of myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is unknown, but...

Paroxysmal exercise-induced neurological symptoms (PENS) encompass a wide spectrum of clinical phenomena commonly presenting during childhood and characteristically elicited by physical exercise. Interestingly, few shared pathogenetic mechanisms have been identified beyond the well-known entity...

Identification of differential genetic profiles in severe forms of fibromyalgia and chronic fatigue syndrome/myalgic encephalomyelitis: A population-based genetic association study Ferran J. Garcia-Fructuoso, Jose Ignacio Lao-Villadoniga, Cristina Santos, Violant Poca-Dias, Joaquim...

Abstract Background and Objectives Chronic widespread musculoskeletal pain (CWP) is a symptom of fibromyalgia and a complex trait with poorly understood pathogenesis. CWP is heritable (48-54%), but its genetic architecture is unknown and candidate gene studies have produced inconsistent results...

Highlights • ME/CFS is characterized by skewed B cell receptor gene usage. • Upregulation of specific IGHV genes correlated to infection-related episodes at onset. • Plasmablasts of ME/CFS patients upregulated interferon response genes. • B cell receptor repertoire analysis can provide a useful...

" Abstract Importance Psychotic experiences, such as hallucinations and delusions, are reported by approximately 5%-10% of the general population, though only a small proportion develop psychotic disorders such as schizophrenia. Studying the genetic aetiology of psychotic experiences in the...

Abstract This is a significant finding not only on the Alzheimer's front. Previously, the exact role of the immune system in early-onset Alzheimer's was unclear. Early-onset Alzheimer's is one of the diseases also showing overlaps with CFS/ME. This is one of the reasons why a differential...

Preprint https://www.medrxiv.org/content/10.1101/2020.10.27.20220939v1 Threads on genetic risks listed here: https://www.s4me.info/threads/evidence-for-a-genetic-component-in-me-cfs-discussion-thread.16117/#post-277072

https://academic.oup.com/hmg/article/doi/10.1093/hmg/ddaa169/5879704

I'm looking for evidence for a genetic component in ME/CFS and a discussion of the quality of evidence for each the studies. Here are some I found after a quick search (haven't read them all), are there important ones missing? Hickie et al. 2001. A Twin Study of the Etiology of Prolonged...

Open access, https://www.tandfonline.com/doi/full/10.1080/24740527.2020.1712652

https://pubmed.ncbi.nlm.nih.gov/32658146/ No idea if this is a promising lead or not, but here is a thread of one of the PIs explaining what they found

Moderator note: Please note: at this point only people from the UK will be eligible to participate in the study. However people from anywhere, with or without ME/CFS, can register their interest in receiving updates about the study. People who register will receive information about...

Provisionally accepted opinion article in frontiers in Pediatrics - Paediatric Neurology Review of the Quality Control Checks Performed by Current Genome-Wide and Targeted-Genome Association Studies on Myalgic Encephalomyelitis/Chronic Fatigue Syndrome by Nuno Sepulveda, Anna D. Grabowski...

https://www.frontiersin.org/articles/10.3389/fimmu.2020.00578/full Excerpt: In conclusion, our study shows that the PTPN22 rs2476601 and CTLA4 rs3087243 autoimmunity risk variants are more frequent in patients with ITO ME/CFS. This finding provides further evidence that there is a genetic...

From Article: How sick will the coronavirus make you? The answer may be in your genes By Jocelyn KaiserMar. 27, 2020 , 3:25 PM https://www.sciencemag.org/news/2020/03/how-sick-will-coronavirus-make-you-answer-may-be-your-genes# the projects website: https://www.covid19hg.com/ @Chris Ponting

I searched but couldn't find this here, which is surprising. I've also Googled and can't find details of this elsewhere...