Article
The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation.
Human molecular genetics - 15 Dec 2017
Velkova Aneliya, Diaz Jennifer E L, Pangilinan Faith, Molloy Anne M, Mills James L, Shane Barry, Sanchez Erica, Cunningham Conal, McNulty Helene, Cropp Cheryl D, Bailey-Wilson Joan E, Wilson Alexander F, Brody Lawrence C
Abstract excerpt
Vitamin B12 deficiency is common in older individuals. Circulating vitamin B12 concentration can be used to diagnose deficiency, but this test has substantial false positive and false negative rates. We conducted genome-wide association studies (GWAS) in which we resolved total serum vitamin B12 into the fractions bound to transcobalamin and haptocorrin: two carrier proteins with very different biological...
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