Mannose-binding lectin and its genetic variants
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Fecha
2006-06-05Autor(es)
Garred, Peter
Larsen, F.
Seyfarth, J.
Fujita, Ricardo
Madsen, Hans O.
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Mannose-binding lectin (MBL) is a collagen-like serum protein that mediates activation of the complement system and is of
importance for host defence. Common variant alleles situated both in the promoter and structural region of the human MBL
gene (MBL2) influence the stability and the serum concentration of the protein. Epidemiological studies have suggested that
genetically determined variation in MBL serum concentration influences the susceptibility to and the course of different types of
infections, autoimmune, metabolic and cardiovascular diseases, but this is still a subject of debate. The fact that these genetic
variations are very frequent indicates a dual role for MBL in host defence. In this survey, we summarize the current molecular
understanding of human MBL genetics.
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