title: Increased frequency of the C4A*6 rare allele in rheumatic heart disease.
abstract: The aim of the present investigation was to determine whether the alleles of the MHC class III complement proteins BF, C2 and C4 (C4A and C4B) could be markers for RHD in the Brazilian population. Forty-nine patients with chronic RHD were studied. The controls included 65 healthy unrelated individuals, matched with the patients according to sex, age and ethnical background. BF, C2, C4A and C4B allotypes were determined by standard technologies including Western blots for C2 and C4 variants with monoclonal and policlonal antibodies. The results showed a significantly elevated presence of the C4A*6 rare allele (p = 0.003 RR = 11.85) and a decrease of C4A*3 in the patients. In addition, C4 null and BF and C4 rare alleles were more frequent in patients than in the controls. Considering that in this investigation only RHD patients were included, further studies are necessary in order to clarify whether C4A6 is a marker for the cardiac form or for the disease itself.
authors.affiliation: Departamento de Patologia Clinica, Hospital de Clinicas da Universidade Federal do Parana, Brazil.
authors.forename: I J
authors.initials: IJ
authors.lastname: de Messias
authors.forename: E
authors.initials: E
authors.lastname: Cavalcanti
authors.forename: S C
authors.initials: SC
authors.lastname: Radominski
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D003181:Complement C4 / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D012214:Rheumatic Heart Disease / Q000235:genetics*
chemical_list: D003181:Complement C4