Expressive

rs11600896 - OR8H1

Magnitude 2.0 · 2 studies on file

Reported associations

  • Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases - NPJ genomic medicine (2025) · Jordà P, Lai Y, Jeuken A, Lemieux Perreault LP, Goulet E, Lahrouchi N, Nozza A, Tanck MW, Guerra P, Cadrin-Tourigny J, de Denus S, Bezzina CR, Lettre G, Busseuil D, Dubé MP, Tardif JC, Tadros R · PubMed 41022758

    ABSTRACT: Common genetic variation detected by genome-wide association studies (GWAS) partially explains variability in the spectrum of cardiac phenotypes. In this work, we explore genetic correlations among 58 cardiac-related traits/diseases, detecting novel ones. We subsequently employ multi-trait analysis of GWAS (MTAG), which meta-analyzes genetically correlated traits, to improve genomic loci discovery and prediction in atrial fibrillation (AF), coronary artery disease (CAD), and heart failure (HF). We identify 19 novel loci specific for AF, 131 for CAD, and 141 for HF. Polygenic scores (PGS) in 15,177 Canadian individuals show similar results when PGS are derived from conventional GWAS versus MTAG summary statistics, although MTAG-PGS improve prediction and discrimination of CAD in f

  • Genome-wide association of polygenic risk extremes for Alzheimer's disease in the UK Biobank - Scientific reports (2022) · Gouveia C, Gibbons E, Dehghani N, Eapen J, Guerreiro R, Bras J · PubMed 35589863

    ABSTRACT: In just over a decade, advances in genome-wide association studies (GWAS) have offered an approach to stratify individuals based on genetic risk for disease. Using recent Alzheimer's disease (AD) GWAS results as the base data, we determined each individual's polygenic risk score (PRS) in the UK Biobank dataset. Using individuals within the extreme risk distribution, we performed a GWAS that is agnostic of AD phenotype and is instead based on known genetic risk for disease. To interpret the functions of the new risk factors, we conducted phenotype analyses, including a phenome-wide association study. We identified 246 loci surpassing the significance threshold of which 229 were not reported in the base AD GWAS. These include loci that showed suggestive levels of association in the

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