Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44.

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 s

SUBMITTER: Ammitzboll CG 

PROVIDER: S-EPMC3759447 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature