title: Polymorphisms of HLA-DRB1, -DQA1 and -DQB1 in inhabitants of Astana, the capital city of Kazakhstan.
abstract: 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.
  
  
  RESULTS
  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
  The HLA-DRB1, -DQA1 and -DQB1 loci are highly polymorphic in the Kazakh population, and this population has the closest relationship with other Asian and Siberian populations.
authors.affiliation: Medical University Clinic, Tübingen, Germany.
authors.forename: Alexandr B
authors.initials: AB
authors.lastname: Kuranov
authors.affiliation: Chelyabinsk Regional Blood Centre, Chelyabinsk, Russian Federation.
authors.forename: Mikhail N
authors.initials: MN
authors.lastname: Vavilov
authors.affiliation: National Research Center for Maternal and Child Health, Astana, Kazakhstan.
authors.forename: Gulshara Zh
authors.initials: GZh
authors.lastname: Abildinova
authors.affiliation: National Center for Biotechnology, Astana, Kazakhstan.
authors.forename: Ainur R
authors.initials: AR
authors.lastname: Akilzhanova
authors.affiliation: National Center for Biotechnology, Astana, Kazakhstan.
authors.forename: Aisha N
authors.initials: AN
authors.lastname: Iskakova
authors.affiliation: National Center for Biotechnology, Astana, Kazakhstan.
authors.forename: Elena V
authors.initials: EV
authors.lastname: Zholdybayeva
authors.affiliation: NRC Institute of Immunology FMBA of Russia, Moscow, Russian Federation.
authors.forename: Margarita N
authors.initials: MN
authors.lastname: Boldyreva
authors.affiliation: Medical University Clinic, Tübingen, Germany.
authors.forename: Claudia A
authors.initials: CA
authors.lastname: Müller
authors.affiliation: National Center for Biotechnology, Astana, Kazakhstan.
authors.forename: Kuvat T
authors.initials: KT
authors.lastname: Momynaliev
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D059848:HLA-DQ alpha-Chains / Q000235:genetics*; D059866:HLA-DQ beta-Chains / Q000235:genetics*; D059811:HLA-DRB1 Chains / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007623:Kazakhstan; D015810:Linkage Disequilibrium; D011110:Polymorphism, Genetic
chemical_list: D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C069050:HLA-DQA1 antigen; C069051:HLA-DQB1 antigen; D059811:HLA-DRB1 Chains