Expressive

rs10502289 - ENOSF1

Magnitude 2.2 · 2 studies on file

Reported associations

  • Quantitative trait loci mapping of circulating metabolites in cerebrospinal fluid to uncover biological mechanisms involved in brain-related phenotypes. - Molecular psychiatry (2025) · Reus LM, Boltz T, Francia M, Bot M, Ramesh N, Koromina M, Pijnenburg YAL, den Braber A, van der Flier WM, Visser PJ, van der Lee SJ, Tijms BM, Teunissen CE, Loohuis LO, Ophoff RA · PubMed 40021830

    Genomic studies of molecular traits have provided mechanistic insights into complex disease, though these lag behind for brain-related traits due to the inaccessibility of brain tissue. We leveraged cerebrospinal fluid (CSF) to study neurobiological mechanisms in vivo, measuring 5543 CSF metabolites, the largest panel in CSF to date, in 977 individuals of European ancestry. Individuals originated from two separate cohorts including cognitively healthy subjects (n = 490) and a well-characterized memory clinic sample, the Amsterdam Dementia Cohort (ADC, n = 487). We performed metabolite quantitative trait loci (mQTL) mapping on CSF metabolomics and found 126 significant mQTLs, representing 65 unique CSF metabolites across 51 independent loci. To better understand the role of CSF mQTL

  • Rare and common genetic determinants of metabolic individuality and their effects on human health - Unknown journal (n.d.) · Unknown authors · PubMed 36357675

    ABSTRACT: Garrod's concept of 'chemical individuality' has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. We studied the genetic architecture of the human plasma metabolome using 913 metabolites assayed in 19,994 individuals and identified 2,599 variant-metabolite associations (P < 1.25 × 10−11) within 330 genomic regions, with rare variants (minor allele frequency ≤ 1%) explaining 9.4% of associations. Jointly modeling metabolites in each region, we identified 423 regional, co-regulated, variant-metabolite clusters called genetically influenced metabotypes. We assigned causal genes for 62.4% of these genetically influenced meta

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.