Genome-Wide Association Study Identifies Genetic Risk Factors for Spastic Cerebral Palsy.

ABSTRACT:

Background

Although many clinical risk factors of spastic cerebral palsy (CP) have been identified, the genetic basis of spastic CP is largely unknown. Here, using whole-genome genetic information linked to a deidentified electronic health record (BioVU) with replication in the UK Biobank and FinnGen, we perform the first genome-wide association study (GWAS) for spastic CP.

Objective

To define the genetic basis of spastic CP.

Methods

Whole-genome data were obtained using the multi-ethnic genotyping array (MEGA) genotyping array capturing single-nucleotide polymorphisms (SNPs), minor allele frequency (MAF) > 0.01, and imputation quality score (r2) > 0.3, imputed based on the 1000 genomes phase 3 reference panel. Threshold for genome-wide significance was defined after

SUBMITTER: Hale AT 

PROVIDER: S-EPMC8364821 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature