Expressive

rs11197481 - ATRNL1 - GFRA1 x SEZ6L

Magnitude 2.0 · 2 studies on file

Reported associations

  • Genome-wide interaction analysis of pathological hallmarks in Alzheimer's disease - Neurobiology of aging (2021) · Wang H, Yang J, Schneider JA, De Jager PL, Bennett DA, Zhang HY · 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

  • Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study. - The Lancet. Neurology (2017) · Moss DJH, Pardiñas AF, Langbehn D, Lo K, Leavitt BR, Roos R, Durr A, Mead S, Holmans P, Jones L, Tabrizi SJ · PubMed 28642124

    Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008-11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Hu

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