meta-analysis · 2022 · en
Mapping Genomic Loci Implicates Genes and Synaptic Biology in Schizophrenia
Trubetskoy V, Pardiñas AF, Qi T, Millard SP, Bryois J, Lam M, et al.
Nature 604(7906):502-508
Evidencia · SeminalOpen Access
Síntesis
PGC-SCZ wave 3 GWAS (n=76,755 cases / 243,649 controls) identifying 287 loci with prioritized genes converging on synaptic biology, especially glutamatergic neurotransmission and excitatory neuron biology.
Etapas
12-18, transversal
Dominios
mental-health, behavioral-genetics
Tags
GWAS · schizophrenia · polygenic · PGC · synaptic-biology · 287-loci
Afirmaciones que citan esta fuente (1)
clm-gwas-polygenic-architecture
Well-powered GWAS show that schizophrenia, autism and educational attainment are polygenic, with hundreds to thousands of small-effect common variants converging on synaptic and neurodevelopmental biology; polygenic scores are useful research tools but not clinically diagnostic i