Expressive

rs11011683 - PLXDC2

Magnitude 2.2 · 2 studies on file

Reported associations

  • A genome-wide association study of serum proteins reveals shared loci with common diseases - Unknown journal (n.d.) · Unknown authors · PubMed 35078996

    ABSTRACT: With the growing number of genetic association studies, the genotype-phenotype atlas has become increasingly more complex, yet the functional consequences of most disease associated alleles is not understood. The measurement of protein level variation in solid tissues and biofluids integrated with genetic variants offers a path to deeper functional insights. Here we present a large-scale proteogenomic study in 5,368 individuals, revealing 4,035 independent associations between genetic variants and 2,091 serum proteins, of which 36% are previously unreported. The majority of both cis- and trans-acting genetic signals are unique for a single protein, although our results also highlight numerous highly pleiotropic genetic effects on protein levels and demonstrate that a protein's

  • Genome-Wide association study of quantitative biomarkers identifies a novel locus for alzheimer's disease at 12p12.1 - Unknown journal (n.d.) · Unknown authors · PubMed 35086473

    ABSTRACT: Background Genetic study of quantitative biomarkers in Alzheimer's Disease (AD) is a promising method to identify novel genetic factors and relevant endophenotypes, which provides valuable information to deconvolute mechanistic complexity and better understand disease subtypes. Results Using the data from the Alzheimer's Disease Neuroimaging Initiative (ADNI), we performed a genome-wide association study (GWAS) between 565,373 single nucleotide polymorphisms (SNPs) and 16 key AD biomarkers from 1,576 subjects at four visits. We identified a novel locus rs5011804 at 12p12.1 significantly associated with several AD biomarkers, including three cognitive traits (CDRSB, FAQ, ADAS13) and one imaging trait (fusiform volume). Additional mediation and interaction analyses investigated

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