Expressive

rs10512605 - RNF157 x PLCB1

Magnitude 2.0 · 2 studies on file

Reported associations

  • Tissue-specific genetic variation suggests distinct molecular pathways between body shape phenotypes and colorectal cancer - Unknown journal (n.d.) · Unknown authors · PubMed 38640244

    ABSTRACT: It remains unknown whether adiposity subtypes are differentially associated with colorectal cancer (CRC). To move beyond single-trait anthropometric indicators, we derived four multi-trait body shape phenotypes reflecting adiposity subtypes from principal components analysis on body mass index, height, weight, waist-to-hip ratio, and waist and hip circumference. A generally obese (PC1) and a tall, centrally obese (PC3) body shape were both positively associated with CRC risk in observational analyses in 329,828 UK Biobank participants (3728 cases). In genome-wide association studies in 460,198 UK Biobank participants, we identified 3414 genetic variants across four body shapes and Mendelian randomization analyses confirmed positive associations of PC1 and PC3 with CRC risk (52,77

  • 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

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