title: Functional MASP2 gene polymorphism in patients with history of rheumatic fever.
abstract: In this study we investigated whether partial or total MASP-2 deficiencies resulting from Asp105Gly mutation are associated with rheumatic fever (RF) and chronic rheumatic heart disease (RHD). The Asp105Gly MASP2 mutation (D105G) was detected by polymerase chain reaction-restriction fragment length polymorphism in 148 patients (43 men and 105 women; mean age 39.1 +/- 14.4 years) with a history of RF, including 106 (73%) with RHD and 42 (27%) without cardiac sequelae, and 129 control subjects (52 men and 77 women, mean age 38.4 +/- 12.2 years). The D105G mutation was detected in four patients with RHD (3.77%) and in five control subjects (3.88%), all in the heterozygous state. None of the patients without cardiac sequelae had the mutation. No significant difference was found in the frequency of the mutant allele between the groups (p < 0.6). These results suggest that the D105G mutation in the MASP2 gene does not play a major role in the pathogenesis of RF. Whether D105G plays a role in the development of RHD should be ascertained in future studies.
authors.affiliation: Departamento de Patologia Médica, Hospital de Clínicas da Universidade Federal do Paraná (UFPR), Curitiba, Paraná, Brazil.
authors.forename: Marcelo Derbli
authors.initials: MD
authors.lastname: Schafranski
authors.forename: Lílian
authors.initials: L
authors.lastname: Pereira Ferrari
authors.forename: Daniela
authors.initials: D
authors.lastname: Scherner
authors.forename: Renato
authors.initials: R
authors.lastname: Torres
authors.forename: Iara José
authors.initials: IJ
authors.lastname: de Messias-Reason
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D002648:Child; D002908:Chronic Disease; D005260:Female; D006801:Humans; D008297:Male; D050606:Mannose-Binding Protein-Associated Serine Proteases / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012213:Rheumatic Fever / Q000175:diagnosis / Q000235:genetics*; D012214:Rheumatic Heart Disease / Q000175:diagnosis / Q000235:genetics*
chemical_list: C105296:MASP2 protein, human; D050606:Mannose-Binding Protein-Associated Serine Proteases