title: Rapid genetic screening for major human leukocyte antigen risk haplotypes in patients with type 1 diabetes from Northeastern Brazil.
abstract: The aim of this study was to identify in the Brazilian population the frequency of human leukocyte antigen (HLA) DQ2.5 and DQ8 haplotypes conferring risk for type 1 diabetes (T1D), and to validate a new genotyping method aimed at cost reduction and automation. A total of 184 children and adolescents with T1D and 184 healthy individuals from Recife (northeastern Brazil) were analyzed using the conventional polymerase chain reaction-sequence-specific primers HLA genotyping and a newly described Tag-single-nucleotide polymorphism real-time polymerase chain reaction. The Tag-single-nucleotide polymorphism-based HLA genotyping method was successfully validated, proved to be robust, with limited cost and thus could be successfully used for the identification of genetic susceptibility for T1D in areas with limited financial resources. Our findings report for the first time the distribution of DQ2.5 and DQ8 HLA risk haplotypes associated with T1D in northeastern Brazil and evidence a major risk for developing T1D when the heterozygous DQ2.5/DQ8 or the homozygous DQ2.5/DQ2.5 haplotypes are present.
authors.affiliation: Laboratorio de Imunopatologia Keizo Azami (LIKA), Federal University of Pernambuco, Recife, Pernambuco, Brazil.
authors.forename: Lucas C
authors.initials: LC
authors.lastname: Brandao
authors.forename: Serena
authors.initials: S
authors.lastname: Vatta
authors.forename: Rafael
authors.initials: R
authors.lastname: Guimaraes
authors.forename: Ludovica
authors.initials: L
authors.lastname: Segat
authors.forename: Jaqueline
authors.initials: J
authors.lastname: Araujo
authors.forename: Josè L
authors.initials: JL
authors.lastname: De Lima Filho
authors.forename: Luiz C
authors.initials: LC
authors.lastname: Arraes
authors.forename: Tarcisio
authors.initials: T
authors.lastname: Not
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
mesh_terms: D000293:Adolescent; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006683:HLA-DQ Antigens / Q000032:analysis*; D006239:Haplotypes; D006650:Histocompatibility Testing / Q000379:methods; D006801:Humans; D007223:Infant; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D055815:Young Adult
chemical_list: D006683:HLA-DQ Antigens; C053186:HLA-DQ2 antigen; C109756:HLA-DQ8 antigen