Expressive

rs11008099 - HNRNPA1P32 - RN7SL63P

Magnitude 4.5 · 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

  • The Impact of Ancestry and Common Genetic Variants on QT Interval in African Americans - Unknown journal (n.d.) · Unknown authors · PubMed 23166209

    ABSTRACT: Background Ethnic differences in cardiac arrhythmia incidence have been reported, with a particularly high incidence of sudden cardiac death (SCD) and low incidence of atrial fibrillation in individuals of African ancestry. We tested the hypotheses that African ancestry and common genetic variants are associated with prolonged duration of cardiac repolarization, a central pathophysiological determinant of arrhythmia, as measured by the electrocardiographic QT interval. Methods and Results First, individual estimates of African and European ancestry were inferred from genome-wide single nucleotide polymorphism (SNP) data in seven population-based cohorts of African Americans (n=12 097) and regressed on measured QT interval from electrocardiograms. Second, imputation was performed

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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Bloodwork

  • serum potassium and magnesium levels Moderate

    Hypokalemia and hypomagnesemia prolong QT interval; individuals with genetic QT prolongation are at higher risk if electrolytes are suboptimal.

    annual or as part of routine health screening

Discuss with your doctor

  • review of QT-prolonging medications Moderate

    Genetic predisposition to QT prolongation increases arrhythmia risk when combined with QT-prolonging medications.

    discuss with physician before starting new medications; provide ECG results if available

Screening

  • baseline ECG measurement of QT interval Moderate

    rs11008099 A allele is associated with longer QT interval (2.74 ms per allele), a cardiac repolarization measure linked to arrhythmia risk.

    single 12-lead ECG at baseline health assessment