Open AccessGenome-Wide Association Study Identifies Genetic Risk Factors for Spastic Cerebral Palsy
Author(s) -
Andrew T. Hale,
Oluwatoyin Akinnusotu,
Jing He,
Janey Wang,
Natalie Hibshman,
Chevis N. Shan,
Robert P. Naftel
Publication year - 2021
Publication title -
neurosurgery/neurosurgery online
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.455
H-Index - 198
eISSN - 1081-1281
pISSN - 0148-396X
DOI - 10.1093/neuros/nyab184
Subject(s) - genome wide association study , single nucleotide polymorphism , genetics , genetic association , imputation (statistics) , minor allele frequency , bonferroni correction , genotyping , biology , expression quantitative trait loci , 1000 genomes project , genotype , gene , computer science , machine learning , missing data , statistics , mathematics
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.