Premium
High‐resolution characterization of 12 classical and non‐classical HLA loci in Southern Brazilians
Author(s) -
Castro Mariana de Sousa,
Issler Hellen C.,
Gelmini Geórgia F.,
de Miranda Bruna L. M.,
CalongaSolís Verónica,
Schmidt Alexander H.,
Stein Anke,
Bicalho Maria da Graça,
PetzlErler Maria Luiza,
Augusto Danillo G.
Publication year - 2019
Publication title -
hla
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.347
H-Index - 99
eISSN - 2059-2310
pISSN - 2059-2302
DOI - 10.1111/tan.13488
Subject(s) - human leukocyte antigen , linkage disequilibrium , biology , genetics , allele , genotyping , sanger sequencing , population , hla a , genotype , haplotype , transplantation , gene , dna sequencing , antigen , medicine , surgery , environmental health
The human leukocyte antigen (HLA) are the most polymorphic genes in the human genome. Because of their importance for antigen recognition, HLA molecules play a central role in host defense and graft rejection upon transplantation. The aim of this study was to characterize allelic diversity of the classical HLA genes HLA‐A, ‐B, ‐C, ‐DRA, ‐DRB1, ‐DQA1, ‐DQB1, ‐DPA1, ‐DPB1 , and the non‐classical class I genes HLA‐E, ‐F and ‐G at high‐resolution for a population of predominantly European ancestry from Curitiba, Brazil. Genotyping of 108 individuals was performed by next‐generation sequencing on the MiSeq platform and also by Sanger sequencing. The genotype distributions of all loci were in accordance with Hardy‐Weinberg equilibrium ( P > 0.05) and a total of 202 HLA variants at second field resolution were observed for the 12 loci. The strongest linkage disequilibrium ( r 2 = 1.0, P < 10 −5 ) was observed for the following pairs of alleles : HLA‐B*42:01:01 ~ HLA‐DRB1*03:02:01; HLA‐B*14:02:01 ~ HLA‐C*08:02:01; B*42:01:01 ~ HLA‐C*17:01:01; HLA‐DRB1*03:01:01 ~ HLA‐DQB1*02:01:01 ~ DRB1*03:01:01 ~ HLA‐DQB1*02:01:01; DRB1*13:01:01~ HLA‐DQB1*06:03:01 and HLA‐DRB1*09:01:02 ~ HLA‐DQA1*03:02. This is the first study to characterize all 12 HLA genes at high resolution in a single population. On the basis of the allelic frequencies of worldwide populations and principal component analysis, we confirmed the similarity of the study population to European and other Euro‐descendant populations.