Expressive

rs116173579 - CACNA1E - RN7SKP229

Magnitude 2.2 · 2 studies on file

Reported associations

  • Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals - Unknown journal (n.d.) · Unknown authors · PubMed 35361970

    ABSTRACT: We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a sample of ~3 million individuals and identify 3,952 approximately uncorrelated genome-wide-significant single-nucleotide polymorphisms (SNPs). A genome-wide polygenic predictor, or polygenic index (PGI), explains 12-16% of EA variance and contributes to risk prediction for ten diseases. Direct effects (i.e., controlling for parental PGIs) explain roughly half the PGI's magnitude of association with EA and other phenotypes. The correlation between mate-pair PGIs is far too large to be consistent with phenotypic assortment alone, implying additional assortment on PGI-associated factors. In an additional GWAS of dominance deviations from the additive model, we identify no genome-wide-significan

  • A genome‐wide association meta‐analysis of all‐cause and vascular dementia - Unknown journal (n.d.) · Unknown authors · PubMed 39046104

    ABSTRACT: Abstract INTRODUCTION Dementia is a multifactorial disease with Alzheimer's disease (AD) and vascular dementia (VaD) pathologies making the largest contributions. Yet, most genome‐wide association studies (GWAS) focus on AD. METHODS We conducted a GWAS of all‐cause dementia (ACD) and examined the genetic overlap with VaD. Our dataset includes 800,597 individuals, with 46,902 and 8702 cases of ACD and VaD, respectively. Known AD loci for ACD and VaD were replicated. Bioinformatic analyses prioritized genes that are likely functionally relevant and shared with closely related traits and risk factors. RESULTS For ACD, novel loci identified were associated with energy transport (SEMA4D), neuronal excitability (ANO3), amyloid deposition in the brain (RBFOX1), and magnetic resonanc

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