biostudies-literatureAmmitzboll CGNHLBI NIH HHSe73317https://www.ebi.ac.uk/biostudies/studies/S-EPMC3759447biostudies-literatureUnknown8(9)<h4>Introduction</h4>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.<h4>Methods</h4>Fifteen SNPs were genotyped in the MASP1 gene in 350 blood donors. Corresponding plasma concentrations of MASP-1, MASP-3, and MAp44 were measured.<h4>Results</h4>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 sPloS onePolymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44.PMC3759447RC2 HL102926RC2 HL102925UC2 HL102923RC2 HL102924RC2 HL102923UC2 HL102924UC2 HL102925HL-103010UC2 HL102926RC2 HL103010HL-102925HL-102926HL-102923HL-102924UC2 HL103010Ammitzboll CGThiel SStengaard-Pedersen KSteffensen RJensenius JCJorgen Nielsen HBogsted MfalsePolymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44.<h4>Introduction</h4>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.<h4>Methods</h4>Fifteen SNPs were genotyped in the MASP1 gene in 350 blood donors. Corresponding plasma concentrations of MASP-1, MASP-3, and MAp44 were measured.<h4>Results</h4>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 s2013-01-01T00:00:00Z20132026-05-02T12:20:21.033Z2026-04-07T18:00:34.312ZS-EPMC37594472402386010.1371/journal.pone.0073317