Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits.

doi:10.1038/s41588-024-01973-7

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Article

Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits.

Nature genetics - 1 Dec 2024

Wang Ciyang, Yang Chengran, Western Daniel, Ali Muhammad, Wang Yueyao, Phuah Chia-Ling, Budde John, Wang Lihua, Gorijala Priyanka, Timsina Jigyasha, Ruiz Agustin, Pastor Pau, Fernandez Maria Victoria, Panyard Daniel J, Engelman Corinne D, Deming Yuetiva, Boada Merce, Cano Amanda, Garcia-Gonzalez Pablo, Graff-Radford Neill R, Mori Hiroshi, Lee Jae-Hong, Perrin Richard J, Ibanez Laura, Sung Yun Ju, Cruchaga Carlos

Abstract excerpt

Brain metabolism perturbation can contribute to traits and diseases. We conducted a genome-wide association study for cerebrospinal fluid (CSF) and brain metabolite levels, identifying 205 independent associations (47.3% new signals, containing 11 new loci) for 139 CSF metabolites, and 32 independent associations (43.8% new signals, containing 4 new loci) for 31 brain metabolites. Of these, 96.9% (CSF) and 71.4%...

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PMID: 39528826
DOI: 10.1038/s41588-024-01973-7
PMCID: PMC12090064

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