{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T10:29:21Z","timestamp":1761128961600},"reference-count":47,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,10,29]],"date-time":"2011-10-29T00:00:00Z","timestamp":1319846400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int J Immunogenetics"],"published-print":{"date-parts":[[2012,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Mannose\u2010binding lectin (MBL) is a protein able to bind to carbohydrate patterns on pathogen membranes; upon MBL binding, its\u2019 associated serine protease MBL\u2010associated serine protease type 2 (MASP2) is autoactivated, promoting the activation of complement via the lectin pathway. For both <jats:italic>MBL2<\/jats:italic> and <jats:italic>MASP2<\/jats:italic> genes, the frequencies of polymorphisms are extremely variable between different ethnicities, and this aspect has to be carefully considered when performing genetic studies. While polymorphisms in the MBL\u2010encoding gene (<jats:italic>MBL2<\/jats:italic>) have been associated, depending upon ethnicity, with several diseases in different populations, little is known about the distribution of <jats:italic>MASP2<\/jats:italic> gene polymorphisms in human populations. The aim of our study was thus to determine the frequencies of <jats:italic>MBL2<\/jats:italic> (exon 1 and promoter) and <jats:italic>MASP2<\/jats:italic> (p.D371Y) polymorphisms in a Brazilian population from Rio de Janeiro. A total of 294 blood donor samples were genotyped for 27 polymorphisms in the <jats:italic>MBL2<\/jats:italic> gene by direct sequencing of a region spanning from the promoter polymorphism H\/L rs11003125 to the rs1800451 polymorphism (at codon 57 in the first exon of the gene). Genotyping for <jats:italic>MASP2<\/jats:italic> p.D371Y was carried out using fluorogenic probes. To our knowledge, this is the first study reporting the prevalence of the <jats:italic>MASP2<\/jats:italic> p.D371Y polymorphism in a Brazilian population. The C allele frequency 39% is something intermediate between the reported 14% in Europeans and 90% in Sub\u2010Saharan Africans. <jats:italic>MBL2<\/jats:italic> polymorphisms frequencies were quite comparable to those previously reported for admixed Brazilians. Both <jats:italic>MBL2<\/jats:italic> and <jats:italic>MASP2<\/jats:italic> polymorphisms frequencies reported in our study for the admixed Brazilian population are somehow intermediate between those reported in Europeans and Africans, reflecting the ethnic composition of the southern Brazilian population, estimated to derive from an admixture of Caucasian (31%), African (34%) and Native American (33%) populations. In conclusion, our population genetic study describes the frequencies of <jats:italic>MBL2<\/jats:italic> and <jats:italic>MASP2<\/jats:italic> functional SNPs in a population from Rio de Janeiro, with the aim of adding new information concerning the distribution of these SNPs in a previously unanalysed Brazilian population, thus providing a new genetic tool for the evaluation of the association of <jats:italic>MBL2<\/jats:italic> and <jats:italic>MASP2<\/jats:italic> functional SNPs with diseases in Brazil, with particular emphasis on the state of Rio de Janeiro.<\/jats:p>","DOI":"10.1111\/j.1744-313x.2011.01052.x","type":"journal-article","created":{"date-parts":[[2011,10,29]],"date-time":"2011-10-29T06:42:43Z","timestamp":1319870563000},"page":"32-38","source":"Crossref","is-referenced-by-count":12,"title":["Mannose\u2010binding lectin and MBL\u2010associated serine protease\u20102 gene polymorphisms in a Brazilian population from Rio de Janeiro"],"prefix":"10.1111","volume":"39","author":[{"given":"N. 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