Family-based association of HLA class II alleles and haplotypes with type I diabetes in Brazilians reveals some characteristics of a highly diversified population

Family-based association of HLA class II alleles and haplotypes with type I diabetes in Brazilians reveals some characteristics of a highly diversified population

The association of HLA class II haplotypes with type I diabetes was analyzed in 56 Southeastern Brazilian families using affected family-based controls (AFBAC) method. DRB1-DQA1-DQB1 alleles were determined by polymerase chain reaction/sequence-specific primer genotyping. This study first revealed t...

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Bibliographic Details
Published in:Human immunology Vol. 62; no. 11; pp. 1226 - 1233
Main Authors: Volpini, Walkyria M.G, Testa, Giuliana V, Marques, Sı́lvia B.D, Alves, Lais I, Silva, Maria Elizabeth R, Dib, Sérgio A, Guerra, Gil, Paulino, Maria Fernanda V.M, Marini, Sofia H.V.L, Persoli, Lı́gia B.L, Caillat-Zucman, Sophie
Format: Journal Article
Language:English
Published: United States Elsevier Inc 01-11-2001
Subjects:
Adolescent
Adult
affected family-based control method
Alleles
Brazil
Brazilian population
Child
Diabetes Mellitus, Type 1 - genetics
Diabetes Mellitus, Type 1 - immunology
Female
Genes, MHC Class II
Genotype
Haplotypes
histocompatibility antigen HLA
HLA association
HLA-DQ alpha-Chains
HLA-DQ Antigens - genetics
HLA-DQ beta-Chains
HLA-DR Antigens - genetics
HLA-DRB1 Chains
Humans
Male
type I diabetes
Brazil
Brazilian population
RR
HLA association
SSP
affected family-based control method
HRR
AFBAC
HLA
type I diabetes
PCR
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Summary:The association of HLA class II haplotypes with type I diabetes was analyzed in 56 Southeastern Brazilian families using affected family-based controls (AFBAC) method. DRB1-DQA1-DQB1 alleles were determined by polymerase chain reaction/sequence-specific primer genotyping. This study first revealed the great haplotype diversity of Brazilians (65 different haplotypes even with incomplete DRB1 subtyping), probably due to the admixture of Africans genes with European and Amerindian genes in this population. The results revealed increased frequencies of the DRB1∗03-DQA1∗0501-DQB1∗02 and DRB1∗0401-DQA1∗03-DQB1∗0302 haplotypes in the patient group The highest risk for type I diabetes was associated with the heterozygote DRB1∗03/∗04 genotype as largely reported, and DRB1∗03/X and DRB1∗04/Y genotypes conferred a significant, but much lower disease risk. Protection from type I diabetes revealed some peculiarities in Southeastern Brazilians: a lack of significant protecting effect of the DRB1∗1501-DQA1∗0102-DQB1∗0602 haplotype, and an apparent protection conferred by the DRB1∗13-DQB1∗0301, DRB1∗11-DQB1∗0301, and DRB1∗01-DQB1∗0501 two-locus haplotypes. The risk to type I diabetes in the highly diversified Southeastern Brazilians evidenced specific information to the prediction of the disease in this region of the country.
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ISSN:0198-8859
1879-1166
DOI:10.1016/S0198-8859(01)00323-8