rs1048641 - PM20D2

Magnitude 2.2 · 1 study 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

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