gwas

Abstract Genome-wide association studies (GWAS) have yielded unprecedented insight into the genetic variants associated with many human traits. However, translating this insight into knowledge about causal biological mechanisms remains challenging. One promising recent strategy is to link...

Genome-wide meta-analysis of quantitatively measured generalized anxiety symptoms in individuals of European ancestry Anxiety is heritable and exists on a continuum, with symptoms ranging from adaptive threat response to clinical disorder. Here we performed a genome-wide association...

I had a closer look at the genetic data on ME/CFS in the Million Veterans Program (MVP). It includes data on more than half a million US veterans. Around 90% are male with a mean age of 62, so a very different cohort to DecodeME. The main results are reported in Verma et al. 2024...

Since the DecodeME preprint was released, I have been teaching myself bioinformatics by analyzing the summary statistics from DecodeME and other GWAS. I’ve been publishing my code on GitHub here, and documenting my results here. While I don’t have dramatic headline results, I still thought that...

Biological Insights from Genome-Wide Association Studies and Whole Genome Sequencing of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Maccallini, Paolo Abstract Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a debilitating disorder of poorly understood etiology. We...

Unraveling the genetic susceptibility of irritable bowel syndrome: integrative genome-wide analyses in 845 492 individuals: a diagnostic study Background Irritable bowel syndrome (IBS) significantly impacts individuals due to its prevalence and negative effect on quality of life. Current...

A multi-ancestry meta genome-wide association study of migraine among veterans: associations with traumatic brain injury, depression, and post-traumatic stress disorder Abstract Migraine is a neurovascular disorder that poses a high burden to Veterans, who face a greater risk than sex-matched...

A gene-based association method for mapping traits using reference transcriptome data Abstract Genome-wide association studies (GWAS) have identified thousands of variants robustly associated with complex traits. However, the biological mechanisms underlying these associations are, in...

Bi-ancestral depression GWAS in the Million Veteran Program and meta-analysis in >1.2 million individuals highlight new therapeutic directions Abstract Major depressive disorder is the most common neuropsychiatric disorder, affecting 11% of veterans. We report results of a large meta-analysis...

Genome-wide association study of major anxiety disorders in 122,341 European-ancestry cases identifies 58 loci and highlights GABAergic signaling The major anxiety disorders (ANX; including generalized anxiety disorder, panic disorder and phobias) are highly prevalent, often onset early and...

HLA-DQB1*03:01 strongly affects age of onset of type 1 narcolepsy independently of DQA1 and ethnicity Type 1 narcolepsy (T1N), an autoimmune disease associated with a disruption of hypocretin/orexin neurons, has conserved genetic effects transcending cultures and ethnicities. We pooled data...

Mapping the genetic landscape across 14 psychiatric disorders Psychiatric disorders display high levels of comorbidity and genetic overlap1,2, challenging current diagnostic boundaries. For disorders for which diagnostic separation has been most debated, such as schizophrenia and bipolar...

Whole genome sequence meta-analyses reveal common and rare genetic associations with critical COVID-19 In susceptible patients, COVID-19 causes life-threatening disease driven by immune-mediated inflammatory lung injury. We have previously shown that multiple common host genetic variants are...

Genetic Risk Variants for Multiple Sclerosis and Other Loci Linked to Intrathecal Immunoglobulin G Synthesis BACKGROUND AND OBJECTIVES Intrathecal synthesis of immunoglobulin G (IgG) is a key feature of multiple sclerosis (MS) and a prognostic marker for the disease course. Although previous...

Genome-wide association study of adolescent-onset depression Abstract Adolescent depression is a heritable psychiatric condition with rising global prevalence and severe long-term outcomes, yet its biological underpinnings remain poorly understood. We conducted the first genome-wide...

Genome-wide association studies of Long COVID and post-acute complications of SARS-CoV-2 in the UK Biobank Data The genetic foundations of post-COVID-19 conditions remains unclear. We performed two genome-wide association studies (GWAS) in UK Biobank COVID-19 positive individuals to identify...

Abstract Fibromyalgia is a common and debilitating chronic pain syndrome of poorly understood etiology. Here, we conduct a multi-ancestry genome-wide association study meta-analysis across 2,563,755 individuals (54,629 cases and 2,509,126 controls) from 11 cohorts, identifying the first 26 risk...

Global and Sex-Stratified Genome-Wide Association Study of Long COVID Based on Patient-Driven Symptom Recall We aimed to explore the global and sex-specific genetic variants associated with long COVID, as defined by patient-driven symptom recall. A 1-year cohort study of 2411 COVID-19 patients...

Complex Genetics and Regulatory Drivers of Hypermobile Ehlers-Danlos Syndrome: Insights from Genome-Wide Association Study Meta-analysis [Line breaks added] Background Hypermobile Ehlers Danlos syndrome (hEDS) is the most common subtype of EDS, a group of heritable connective tissue...

SLC45A4 is a pain gene encoding a neuronal polyamine transporter Polyamines are regulatory metabolites with key roles in transcription, translation, cell signalling and autophagy1. They are implicated in multiple neurological disorders, including stroke, epilepsy and neurodegeneration, and can...