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- W2015690645 abstract "Ficolin-1 is a recognition molecule of the lectin complement pathway. The ficolin-1 gene FCN1 is polymorphic, but the functional and clinical consequences are unknown.The concentration of ficolin-1 in plasma and FCN1 polymorphisms in positions −1981 (rs2989727), −791 (rs28909068), −542 (rs10120023), −271 (rs28909976), −144 (rs10117466) and +7918 (rs1071583) were determined in 100 healthy individuals. FCN1 expression by isolated monocytes and granulocytes and ficolin-1 levels in monocyte culture supernatants were assessed in 21 FCN1-genotyped individuals. FCN1 polymorphisms were determined in a cohort of 251 patients with systemic inflammation. High ficolin-1 plasma levels were significantly associated with the minor alleles in position −542 and −144. These alleles were also significantly associated with high FCN1 mRNA expression. The level of ficolin-1 in culture supernatants was significantly higher in individuals homozygous for the minor alleles at positions −542 and −144. Homozygosity for these alleles was significantly associated with fatal outcome in patients with systemic inflammation. None of the other investigated polymorphisms were associated with FCN1 and ficolin-1 expression, concentration or disease outcome. Functional polymorphic sites in the promoter region of FCN1 regulate both the expression and synthesis of ficolin-1 and are associated with outcome in severe inflammation." @default.
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- W2015690645 date "2012-06-07" @default.
- W2015690645 modified "2023-09-27" @default.
- W2015690645 title "Variation in FCN1 affects biosynthesis of ficolin-1 and is associated with outcome of systemic inflammation" @default.
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- W2015690645 doi "https://doi.org/10.1038/gene.2012.27" @default.
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