Background: Kazakhstan has been
inhabited by different populations, such as the Kazakh, Kyrgyz, Uzbek
and others. Here we investigate allelic and haplotypic polymorphisms of
human leukocyte antigen (HLA) genes at DRB1, DQA1 and DQB1 loci in the
Kazakh ethnic group, and their genetic relationship between world
populations. Methodology/Principal Findings: A total of 157 unrelated
Kazakh ethnic individuals from Astana were genotyped using sequence
based typing (SBT- Method) for HLA-DRB1, -DQA1 and -DQB1 loci. Allele
frequencies, neighbor- joining method, and multidimensional scaling
analysis have been obtained for comparison with other world populations.
Statistical analyses were performed using Arlequin v3.11. Applying the
software PAST v. 2.17 the resulting genetic distance matrix was used for
a multidimensional scaling analysis (MDS). Respectively 37, 17 and 19
alleles were observed at HLA-DRB1, -DQA1 and -DQB1 loci. The most
frequent alleles were HLA-DRB1*07:01 (13.1%), HLA-DQA1*03:01 (13.1%) and
HLA-DQB1*03:01 (17.6%). In the observed group of Kazakhs DRB1*07:01-
DQA1*02:01-DQB1*02:01 (8.0%) was the most common three loci haplotype.
DRB1*10:01-DQB1*05:01 showed the strongest linkage disequilibrium. The
Kazakh population shows genetic kinship with the Kazakhs from China,
Uyghurs, Mongolians, Todzhinians, Tuvinians and as well as with other
Siberians and Asians. Conclusions/Significance: The HLA-DRB1, -DQA1and
-DQB1 loci are highly polymorphic in the Kazakh population, and this
population has the closest relationship with other Asian and Siberian
Keywords: HLA-DRB1, HLA-DQA1, HLA-DQB1, Kazakhstan, Kazakh.