Polymorphisms in the MASP1 Gene Are Associated with Serum Levels of MASP-1, MASP-3, and MAp44

Christian Gytz Ammitzbøll, Rudi Steffensen, Hans Jørgen Nielsen, Steffen Thiel, Kristian Stengaard-Pedersen, Martin Bøgsted and Jens Christian Jensenius

PLOS ONE, 2013, vol. 8, issue 9, 1-

Abstract: Introduction: MASP-1 is the first protein in the activation of the lectin pathway and MASP-1 is, like its isoforms MASP-3 and MAp44, encoded by the MASP1 gene. Our aim was to explore associations between polymorphisms in MASP1 and corresponding concentrations of MASP-1, MASP-3, and MAp44 in plasma as well as the genetic contribution to the equilibrium between the three proteins. Methods: Fifteen SNPs were genotyped in the MASP1 gene in 350 blood donors. Corresponding plasma concentrations of MASP-1, MASP-3, and MAp44 were measured. Results: A total of 10 different SNPs showed associations with the concentration of one or some of the three proteins (rs113938200, rs190590338, rs35089177, rs3774275, rs67143992, rs698090, rs72549154, rs72549254, rs75284004, rs7625133), and several of these were in strong linkage. SNPs located in the mutually exclusive splice region had opposite effects on the protein concentrations. Being e.g. homozygote for the minor allele of rs3774275 was associated with an increase in median concentration of 13% in MASP-1(P=0.03), 29% in MAp44 (P

Date: 2013
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Persistent link: https://EconPapers.repec.org/RePEc:plo:pone00:0073317

DOI: 10.1371/journal.pone.0073317

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