Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts - PubMed

6 hours ago

Cerebral palsy (CP) is a neurodevelopmental disorder with both environmental and genetic contributors.
The study evaluated polygenic scores for CP and related traits to understand their contribution to CP etiology.
Two independent cohorts were analyzed: an Australian case-control cohort and a US healthcare cohort (MyCode).
Only participants of European genetic ancestry were included in the study.
Polygenic scores were constructed using a meta-analysis of Finnish and UK cohorts and applied to the target cohorts.
Additional polygenic scores were generated for seven CP-related traits.
The combined model of all eight polygenic scores significantly discriminated CP status, explaining 1.3% of CP liability in the Australian cohort and 0.78% in MyCode.
CP-specific polygenic scores showed minimal predictive signal, likely due to limited GWAS power.
Polygenic scores for known CP predisposing factors (birth weight, gestational duration, stroke) showed modest predictive performance.
Results suggest a measurable polygenic contribution to CP and shared genetic influences with predisposing factors and comorbidities.
Common variants appear to broadly contribute to CP susceptibility, highlighting a multifactorial landscape for earlier diagnosis and intervention.

Hasty Briefsbeta