rs11061809 - IQSEC3-AS1 - SLC6A12

Magnitude 2.2 · 1 study on file

Reported associations

  • 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


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