Functional SNPs in the human ficolin (FCN) genes reveal distinct geographical patterns

摘要: The ficolin protein family comprises three different molecules encoded by the FCN1, FCN2, and FCN3 genes, respectively, that play roles in innate immunity. FCN genes Caucasians are polymorphic genetic variations may have functional consequences both relation to function concentration. ethnic diversity of is unknown. promoter coding regions FCNs were sequenced individuals from five groups: (Denmark, n=60), Japanese (Japan, n=50), South-East Africans (Mozambique, West-Africans (Ghana, Indians (Argentina, n=50). We identified most common gene polymorphisms groups. Large differences observed African populations contained several SNPs not other Several variations, will major impact on proteins, found. Three novel amino acid Ficolin-1*Gly303Ser, Ficolin-2*Arg103Cys, Ficolin-2*Thr137Met SNP predicted computational analyses a physicochemical effect their respective proteins. Additionally, Gly43Asp Ficolin-1 affects Gly-Xaa-Yaa repeats Trp279STOP introduces stop codon, thereby destroying fibrinogen-like domain Ficolin-1. In contrast FCN1 number was very low. conclusion, large affect concentration, structure, detected which probably be pathophysiological relevance disease settings.