Expressive

rs10242455 - ZSCAN25 - CYP3A5

Magnitude 2.2 · 3 studies on file

Reported associations

  • An atlas of genetic influences on human blood metabolites - Unknown journal (n.d.) · Unknown authors · PubMed 24816252

    ABSTRACT: Genome-wide association scans with high-throughput metabolic profiling provide unprecedented insights into how genetic variation influences metabolism and complex disease. Here we report the most comprehensive exploration of genetic loci influencing human metabolism to date, including 7,824 adult individuals from two European population studies. We report genome-wide significant associations at 145 metabolic loci and their biochemical connectivity regarding more than 400 metabolites in human blood. We extensively characterize the resulting in vivo blueprint of metabolism in human blood by integrating it with information regarding gene expression, heritability, overlap with known drug targets, previous association with complex disorders and inborn errors of metabolism. We further

  • Metabolomic architecture of obesity implicates metabolonic lactone sulfate in cardiometabolic disease - Unknown journal (n.d.) · Unknown authors · PubMed 34563731

    ABSTRACT: Objective Identify and characterize circulating metabolite profiles associated with adiposity to inform precision medicine. Methods Untargeted plasma metabolomic profiles in the Insulin Resistance Atherosclerosis Family Study (IRASFS) Mexican American cohort (n = 1108) were analyzed for association with anthropometric (body mass index, BMI; waist circumference, WC; waist-to-hip ratio, WHR) and computed tomography measures (visceral adipose tissue, VAT; subcutaneous adipose tissue, SAT; visceral-to-subcutaneous ratio, VSR) of adiposity. Genetic data, inclusive of genome-wide array-based genotyping, whole exome sequencing (WES) and whole genome sequencing (WGS), were evaluated to identify the genetic contributors. Phenotypic and genetic association signals were replicated across

  • Mining the Unknown: A Systems Approach to Metabolite Identification Combining Genetic and Metabolic Information - Unknown journal (n.d.) · Unknown authors · PubMed 23093944

    ABSTRACT: Recent genome-wide association studies (GWAS) with metabolomics data linked genetic variation in the human genome to differences in individual metabolite levels. A strong relevance of this metabolic individuality for biomedical and pharmaceutical research has been reported. However, a considerable amount of the molecules currently quantified by modern metabolomics techniques are chemically unidentified. The identification of these "unknown metabolites" is still a demanding and intricate task, limiting their usability as functional markers of metabolic processes. As a consequence, previous GWAS largely ignored unknown metabolites as metabolic traits for the analysis. Here we present a systems-level approach that combines genome-wide association analysis and Gaussian graphical

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