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The link between MDM1 and Schizophrenia is currently supported by genome-wide association evidence. A systematic review of 22 independent GWAS identified a locus at MDM1 meeting genome-wide significance in a schizophrenia cohort (PMID:31096178).
No monogenic inheritance pattern, segregating variants, or case-level reports have been described in schizophrenia. No functional studies have directly assessed MDM1 variants in schizophrenia-relevant models. As such, the clinical validity remains limited, and further replication, variant-level analysis, and experimental validation are required to clarify MDM1's role in schizophrenia risk.
Gene–Disease AssociationLimitedGenome-wide association of MDM1 locus in one independent schizophrenia GWAS cohort Genetic EvidenceLimitedSingle GWAS signal; no variant-level or segregation data Functional EvidenceNo evidenceNo functional studies linking MDM1 to schizophrenia |