Expressive

rs12208017 - PHIP - HMGN3 x RNA5SP173 - NDUFB5P1

Magnitude 2.0 · 2 studies on file

Reported associations

  • Genome-wide interaction analysis of pathological hallmarks in Alzheimer's disease - Unknown journal (n.d.) · Unknown authors · PubMed 32450446

    ABSTRACT: Genome-wide association studies have identified many loci associated with Alzheimer's dementia. However, these variants only explain part of the heritability of Alzheimer's disease (AD). As genetic epistasis can be a major contributor to the "missing heritability" of AD, we conducted genome-wide epistasis screening for AD pathologies in two independent cohorts. First, we performed a genome-wide epistasis study of AD-related brain pathologies (Nmax = 1,318) in ROS/MAP. Candidate interactions were validated using cerebrospinal fluid biomarkers of AD in ADNI (Nmax = 1,128). Further functional analysis tested the association of candidate interactions with neuroimaging phenotypes. For tau and amyloid-β (Aβ) pathology, we identified 2,803 and 464 candidate SNP-SNP interaction

  • Genome-Wide Meta-analysis of Variant-by-Diuretic Interactions as Modulators of Lipid Traits in Persons of European and African Ancestry - Unknown journal (n.d.) · Unknown authors · PubMed 31806883

    ABSTRACT: Hypertension (HTN) is a significant risk factor for cardiovascular morbidity and mortality. Metabolic abnormalities, including adverse cholesterol and triglycerides (TG) profiles, are frequent comorbid findings with HTN and contribute to cardiovascular disease. Diuretics, which are used to treat HTN and heart failure, have been associated with worsening of fasting lipid concentrations. Genome-wide meta-analyses with 39,710 European-ancestry (EA) individuals and 9,925 African-ancestry (AA) individuals were performed to identify genetic variants that modify the effect of loop or thiazide diuretic use on blood lipid concentrations. Both longitudinal and cross-sectional data were used to compute cohort-specific interaction results, which were then combined through meta-analysis in ea

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