rs116367656 - SLC4A4 - GC

Magnitude 2.2 · 1 study on file

Reported associations

• Genetic correlates of vitamin D-binding protein and 25-hydroxyvitamin D in neonatal dried blood spots - Unknown journal (n.d.) · Unknown authors · PubMed 36792583

  ABSTRACT: The vitamin D binding protein (DBP), encoded by the group-specific component (GC) gene, is a component of the vitamin D system. In a genome-wide association study of DBP concentration in 65,589 neonates we identify 26 independent loci, 17 of which are in or close to the GC gene, with fine-mapping identifying 2 missense variants on chromosomes 12 and 17 (within SH2B3 and GSDMA, respectively). When adjusted for GC haplotypes, we find 15 independent loci distributed over 10 chromosomes. Mendelian randomization analyses identify a unidirectional effect of higher DBP concentration and (a) higher 25-hydroxyvitamin D concentration, and (b) a reduced risk of multiple sclerosis and rheumatoid arthritis. A phenome-wide association study confirms that higher DBP concentration is associated

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