rs114360492 - CNTNAP2
Magnitude 4.5 · 1 study on file
Reported associations
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Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk - Unknown journal (n.d.) · Unknown authors · PubMed 30617256
ABSTRACT: Alzheimer's disease (AD) is highly heritable and recent studies have identified over 20 disease-associated genomic loci. Yet these only explain a small proportion of the genetic variance, indicating that undiscovered loci remain. Here, we performed a large genome-wide association study of clinically diagnosed AD and AD-by-proxy (71,880 cases, 383,378 controls). AD-by-proxy, based on parental diagnoses, showed strong genetic correlation with AD (rg=0.81). Meta-analysis identified 29 risk loci, implicating 215 potential causative genes. Associated genes are strongly expressed in immune-related tissues and cell types (spleen, liver and microglia). Gene-set analyses indicate biological mechanisms involved in lipid-related processes and degradation of amyloid precursor proteins. We
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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 risk for Alzheimer's disease and family history Moderate
This SNP strongly associates with family history of Alzheimer's disease; physician discussion enables risk stratification and preventive planning.
Discuss at next appointment; provide family history details and inquire about prevention strategies.
Screening
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cognitive health assessment Moderate
CNTNAP2 regulates synaptic connectivity; T allele carriers show significant association with Alzheimer's family history, indicating elevated genetic risk for cognitive aging.
Baseline cognitive screening; repeat annually or per clinical judgment based on results.