Expressive

rs11895615 - NDUFB4P4 - KIF3C

Magnitude 2.2 · 2 studies on file

Reported associations

  • Multivariate genome-wide analysis of immunoglobulin G N-glycosylation identifies new loci pleiotropic with immune function. - Human molecular genetics (2022) · Shadrina AS, Zlobin AS, Zaytseva OO, Klarić L, Sharapov SZ, D Pakhomov E, Perola M, Esko T, Hayward C, Wilson JF, Lauc G, Aulchenko YS, Tsepilov YA · PubMed 33710309

    The N-glycosylation of immunoglobulin G (IgG) affects its structure and function. It has been demonstrated that IgG N-glycosylation patterns are inherited as complex quantitative traits. Genome-wide association studies identified loci harboring genes encoding enzymes directly involved in protein glycosylation as well as loci likely to be involved in regulation of glycosylation biochemical pathways. Many of these loci could be linked to immune functions and risk of inflammatory and autoimmune diseases. The aim of the present study was to discover and replicate new loci associated with IgG N-glycosylation and to investigate possible pleiotropic effects of these loci onto immune function and the risk of inflammatory and autoimmune diseases. We conducted a multivariate genome-wide association

  • A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteins - Unknown journal (n.d.) · Unknown authors · PubMed 40593539

    ABSTRACT: More than a half of plasma proteins are N-glycosylated. Most of them are synthesized, glycosylated, and secreted to the bloodstream by liver and lymphoid tissues. While associations with N-glycosylation are implicated in the rising number of liver, cardiometabolic, and immune diseases, little is known about the genetic regulation of this process. Here, we performed the largest genome-wide association study of N-glycosylation of the blood plasma proteome in 10,000 individuals. We doubled the number of genetic loci known to be associated with blood N-glycosylation by identifying 16 novel loci and prioritizing 13 novel genes contributing to N-glycosylation. Among these were the GCKR, TRIB1, HP, SERPINA1 and CFH genes. These genes are predominantly expressed in the liver and show a p

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