TY - JOUR
T1 - Non-synonymous polymorphisms in the FCN1 gene determine ligand-binding ability and serum levels of M-ficolin
AU - Ammitzbøll, Christian Gytz
AU - Kjær, Troels Rønn
AU - Steffensen, Rudi Nora
AU - Stengaard-Pedersen, Kristian
AU - Nielsen, Hans Jørgen
AU - Thiel, Steffen
AU - Bøgsted, Martin
AU - Jensenius, Jens Christian
PY - 2012
Y1 - 2012
N2 - The innate immune system encompasses various recognition molecules able to sense both exogenous and endogenous danger signals arising from pathogens or damaged host cells. One such pattern-recognition molecule is M-ficolin, which is capable of activating the complement system through the lectin pathway. The lectin pathway is multifaceted with activities spanning from complement activation to coagulation, autoimmunity, ischemia-reperfusion injury and embryogenesis. Our aim was to explore associations between SNPs in FCN1, encoding M-ficolin and corresponding protein concentrations, and the impact of non-synonymous SNPs on protein function.
AB - The innate immune system encompasses various recognition molecules able to sense both exogenous and endogenous danger signals arising from pathogens or damaged host cells. One such pattern-recognition molecule is M-ficolin, which is capable of activating the complement system through the lectin pathway. The lectin pathway is multifaceted with activities spanning from complement activation to coagulation, autoimmunity, ischemia-reperfusion injury and embryogenesis. Our aim was to explore associations between SNPs in FCN1, encoding M-ficolin and corresponding protein concentrations, and the impact of non-synonymous SNPs on protein function.
U2 - 10.1371/journal.pone.0050585
DO - 10.1371/journal.pone.0050585
M3 - Journal article
C2 - 23209787
SN - 1932-6203
VL - 7
SP - e50585
JO - P L o S One
JF - P L o S One
IS - 11
ER -