Expressive

rs11744796 - DNAJC21 - AGXT2

Magnitude 2.2 · 3 studies on file

Reported associations

  • Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases - Unknown journal (n.d.) · Unknown authors · PubMed 36635386

    ABSTRACT: Metabolic processes can influence disease risk and provide therapeutic targets. By conducting genome-wide association studies of 1,091 blood metabolites and 309 metabolite ratios, we identified associations with 690 metabolites at 248 loci; and associations with 143 metabolite ratios at 69 loci. Integrating metabolite-gene and gene expression information identified 94 effector genes for 109 metabolites and 48 metabolite ratios. Using Mendelian Randomization (MR), we identified 22 metabolites and 20 metabolite ratios having estimated causal effect on 12 traits and diseases, including orotate for estimated bone mineral density, alpha-hydroxyisovalerate for body mass index and ergothioneine for inflammatory bowel disease and asthma. We further measured orotate level in a separate co

  • Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations - Unknown journal (n.d.) · Unknown authors · PubMed 37253714

    ABSTRACT: Circulating metabolite levels may reflect the state of the human organism in health and disease, however, the genetic architecture of metabolites is not fully understood. We have performed a whole-genome sequencing association analysis of both common and rare variants in up to 11,840 multi-ethnic participants from five studies with up to 1666 circulating metabolites. We have discovered 1985 novel variant-metabolite associations, and validated 761 locus-metabolite associations reported previously. Seventy-nine novel variant-metabolite associations have been replicated, including three genetic loci located on the X chromosome that have demonstrated its involvement in metabolic regulation. Gene-based analysis have provided further support for seven metabolite-replicated loci pairs a

  • Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function - Unknown journal (n.d.) · Unknown authors · PubMed 39746953

    ABSTRACT: Dissecting the genetic mechanisms underlying urinary metabolite concentrations can provide molecular insights into kidney function and open possibilities for causal assessment of urinary metabolites with risk factors and disease outcomes. Proton nuclear magnetic resonance metabolomics provides a high-throughput means for urinary metabolite profiling, as widely applied for blood biomarker studies. Here we report a genome-wide association study meta-analysed for 3 European cohorts comprising 8,011 individuals, covering both people with type 1 diabetes and general population settings. We identify 54 associations (p < 9.3 × 10−10) for 19 of 54 studied metabolite concentrations. Out of these, 33 were not reported previously for relevant urinary or blood metabolite traits. S

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