rs12185644 - ACTG1P22 - VRK2
Magnitude 4.5 · 2 studies on file
Reported associations
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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture - Unknown journal (n.d.) · Unknown authors · PubMed 37653029
ABSTRACT: Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic pr
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Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies - Unknown journal (n.d.) · Unknown authors · PubMed 30531953
ABSTRACT: The epilepsies affect around 65 million people worldwide and have a substantial missing heritability component. We report a genome-wide mega-analysis involving 15,212 individuals with epilepsy and 29,677 controls, which reveals 16 genome-wide significant loci, of which 11 are novel. Using various prioritization criteria, we pinpoint the 21 most likely epilepsy genes at these loci, with the majority in genetic generalized epilepsies. These genes have diverse biological functions, including coding for ion-channel subunits, transcription factors and a vitamin-B6 metabolism enzyme. Converging evidence shows that the common variants associated with epilepsy play a role in epigenetic regulation of gene expression in the brain. The results show an enrichment for monogenic epilepsy genes
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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Genetic predisposition to childhood absence epilepsy Moderate
Lead SNP at 2p16.1 with strong GWAS signal indicates inherited predisposition relevant to clinical evaluation and family planning considerations.
Inform your neurologist or physician of this genetic finding, especially if you have children or family history of early-onset seizures.
Screening
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EEG screening for childhood absence seizures Moderate
rs12185644 A allele shows genome-wide significant association with childhood absence epilepsy (p=1.04e-12), conferring substantially increased genetic risk in affected carriers.
If carrying A allele, discuss with pediatrician or neurologist about EEG screening during childhood and early adolescence when CAE typically presents.