rs11621121 - MIR4708 - FUT8

Magnitude 2.2 · 1 study on file

Reported associations

• Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults. - Human molecular genetics (2012) · Huffman JE, Knezevic A, Vitart V, Kattla J, Adamczyk B, Novokmet M, Igl W, Pucic M, Zgaga L, Johannson Å, Redzic I, Gornik O, Zemunik T, Polasek O, Kolcic I, Pehlic M, Koeleman CA, Campbell S, Wild SH, Hastie ND, Campbell H, Gyllensten U, Wuhrer M, Wilson JF, Hayward C, Rudan I, Rudd PM, Wright AF, Lauc G · PubMed 21908519

  The majority of human proteins are post-translationally modified by covalent addition of one or more complex oligosaccharides (glycans). Alterations in glycosylation processing are associated with numerous diseases and glycans are attracting increasing attention both as disease biomarkers and as targets for novel therapeutic approaches. Using a recently developed high-throughput high-performance liquid chromatography (HPLC) analysis method, we have reported, in a pilot genome-wide association study of 13 glycan features in 2705 individuals from three European populations, that polymorphisms at three loci (FUT8, FUT6/FUT3 and HNF1A) affect plasma levels of N-glycans. Here, we extended the analysis to 33 directly measured and 13 derived glycosylation traits in 3533 individuals and identified

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