ArticleNeurosurgery2021
Genome-Wide Association Study Identifies Genetic Risk Factors for Spastic Cerebral Palsy.
Article in Neurosurgery, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 17 citations in OpenAlex.
- X-chromosomal genetic variants and haplotype analysis in male cerebral palsy patients: insights into genetic susceptibility and sex-specific risk.Journal of neurodevelopmental disorders · 2026Article
- Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts.EBioMedicine · 2026Article
- Insights into the genetic landscape of cerebral palsy.Clinical and translational medicine · 2025Article
- Genetics of Cerebral Palsy: Diagnosis, Differential Diagnosis, and Beyond.Annals of rehabilitation medicine · 2024Article
- Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.Nature genetics · 2024Article
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7 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundAlthough 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.
objectiveTo define the genetic basis of spastic CP.
methodsWhole-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 Bonferroni correction for the total number of SNPs tested (P < 5.0 × 10-8). Replication analysis (defined as P < .05) was performed in the UK Biobank and FinnGen.
resultsWe identify 1 SNP (rs78686911) reaching genome-wide significance with spastic CP. Expression quantitative trait loci (eQTL) analysis suggests that rs78686911 decreases expression of GRIK4, a gene that encodes a high-affinity kainate glutamatergic receptor of largely unknown function. Replication analysis in the UK Biobank and FinnGen reveals additional SNPs in the GRIK4 loci associated with CP.
conclusionTo our knowledge, we perform the first GWAS of spastic CP. Our study indicates that genetic variation contributes to CP risk.
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