rs116816795 - GNPDA1 - NDFIP1

Magnitude 2.2 · 1 study on file

Reported associations

  • Novel loci and biomedical consequences of iron homoeostasis variation - Unknown journal (n.d.) · Unknown authors · PubMed 39643614

    ABSTRACT: Iron homoeostasis is tightly regulated, with hepcidin and soluble transferrin receptor (sTfR) playing significant roles. However, the genetic determinants of these traits and the biomedical consequences of iron homoeostasis variation are unclear. In a meta-analysis of 12 cohorts involving 91,675 participants, we found 43 genomic loci associated with either hepcidin or sTfR concentration, of which 15 previously unreported. Mapping to putative genes indicated involvement in iron-trait expression, erythropoiesis, immune response and cellular trafficking. Mendelian randomisation of 292 disease outcomes in 1,492,717 participants revealed associations of iron-related loci and iron status with selected health outcomes across multiple domains. These associations were largely driven by HF


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