title: [Polymorphism of histocompatibility class II antigens coded with the DRB gene in in familial sarcoidosis in Poland].
abstract: Several studies suggested association between some human leukocyte antigen (HLA) alleles and sarcoidosis, but none has been conclusive. To confirm possible association of sarcoidosis with HLA-DRB1, -DRB3,- DRB4, -DRB5 associated alleles HLA-DR genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 17 polish families with familial sarcoidosis and in 101 healthy controls. The families with sarcoidosis consisted of 31 affected first-degree relatives from 16 families, 2 affected cousins from 1 family and 78 healthy relatives of those patients. We found 3 varieties of familial sarcoidosis: a) in parent and offspring (5 pairs), b) in siblings (10 sib pairs and 1 sib triplet) and in cousins (1 family). Genotyping for HLA-DRB1,-DRB3,-DRB4,-DRB5 revealed an over-representation of HLA-DR5(12) and DRw52 among antigens shared by affected relatives comparing to the control group. A significant increase in the frequency of HLA-DR7 and HLA-DRw53 antigens (p < 0.05) was found in subjects from the control group. Comparing the group of family members (affected and healthy relatives taken together, n = 111) with the control group (n = 101) we found a significant differences in the distribution of HLA-DR2(15), HLA-DR5(12), HLA-DR6, HLA-DR9 and HLA-DRw52. Those antigens were more frequent (p < 0.05) in members from families with sarcoidosis. The frequencies of HLA-DR1, HLA-DR2(16), HLA-DR7 and HLA-DRw53 were significantly higher (p < 0.05) in the control group. Presented results suggest that HLA-DRB alleles contribute to the susceptibility to sarcoidosis in the Polish population.
authors.affiliation: Kliniki Chorób Płuc Instytutu Gruźlicy i Chorób Płuc, Warszawie.
authors.forename: A
authors.initials: A
authors.lastname: Goljan
authors.forename: E
authors.initials: E
authors.lastname: Puścińska
authors.forename: M
authors.initials: M
authors.lastname: Sankowska
authors.forename: J
authors.initials: J
authors.lastname: Zieliński
mesh_terms: D016022:Case-Control Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D000949:Histocompatibility Antigens Class II / Q000235:genetics*; D006801:Humans; D011044:Poland / Q000453:epidemiology; D011110:Polymorphism, Genetic; D012507:Sarcoidosis / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D012703:Serotyping
chemical_list: D000949:Histocompatibility Antigens Class II