Rare CNV burden tied to schizophrenia risk in East Asians, cross-population study finds
A rare copy number variant study of schizophrenia in East Asian populations, covering 20,903 cases and 23,258 controls, found a significantly elevated genome-wide rare CNV burden in cases compared with controls. Cross-population comparisons showed CNV effects on schizophrenia risk were largely consistent between East Asian and European ancestry groups. Nine genome-wide-significant loci were identified in the East Asian sample alone. Meta-analysis with European data pushed that figure to 14 significant loci, eight of which reached genome-wide significance for the first time. The new rare CNVs associated with schizophrenia in East Asian populations also showed markedly higher carrier frequencies there than in European populations: 0.38 percent against 0.0017 percent.
Schizophrenia CNV research has drawn overwhelmingly from people of European ancestry. A large East Asian sample now shows that rare CNV risk is not evenly distributed across populations. Some risk loci go undetected without broader population coverage, and carrier frequencies for newly identified variants differ sharply between ancestries. Capturing the full genetic architecture of schizophrenia requires studies that reach beyond European cohorts.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].