Background Celiac disease (CD) is a systemic immune-mediated disorder developing in HLA genetically predisposed individuals carrying HLA-DQ2 and/or HLA-DQ8 molecules. Recent evidences supported a predominant importance of HLA-DQB1 locus and, in particular, HLA-DQB1*02 alleles. This diagnosis is poorly considered in Kazakhstan, because of the assumption that CD is not prevalent in this population. Objective To demonstrate that the genetic predisposition to CD in Kazakhstan is not negligible and is actually comparable to Western populations. Methods Through the analysis of HLA-DQ genotypes of healthy bone marrow donors from Kazakhstan's national registry, we estimated the HLA-related genetic predisposition to CD in the country. Results We demonstrated that the frequency of CD-related HLA-DQB1 alleles and, as a consequence, of predisposed individuals to CD in Kazakhstan is significant and comparable to countries with the highest disease prevalence. Conclusion Considering the dietary style in Kazakhstan, including wheat as a staple food, these results provided a preliminary background of knowledge to expect a significant CD prevalence in Kazakhstan and Central Asia by implementing appropriate and cost-effective diagnostic strategies.

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Aim. To compare the prevalence of HLA-system antigens genetic variants in potential hematopoietic stem cells donors in Kazakhstan and worldwide.Methods. Prevalence of HLA-antigens genetic variants in blood samples of potential hematopoietic stem cells donors included in hematopoietic stem cells donors register of Kazakhstan was analyzed and compared to a «Allele frequencies in Worldwide populations» database developed by the Royal Liverpool University Hospital.Results. The biggest overlap of Kazakhstan and World registers was seen in the distribution of 31-01 allele: 68 (4.5%) in Kazakhstan register, 1678 (4.63%) worldwide; odds ratio (OR) = 0.97 (0.76 to 1.24), F=0.851441, χ2=0.06. The biggest difference between the two registers was found in the distribution of locus A antigens: A 02-01 (χ2=24.59), A 02-07 (χ2=24.42), A 32-01 (χ2=27.1), A 02-37 (χ2=23.96), A 11-38 (χ2=3.96). In locus B alleles, the biggest overlap between the two comparison groups was in В 14:02 allele: Kazakhstan register - 31 (2.05%), worldwide register - 757 (2.01%) [OR=1.02 (0.71 to 1.47), F=0.851990, χ2=0.01], followed by 38:02 (χ2=0.02), 44:05 (χ2=0.03), in 27:07 (χ2=0.04), 54:01 (χ2=0.07). The biggest difference between the two registers was in 13:02 (χ2=256.9), 08:01 (χ2=26.92) locus B alleles. Distribution of locus C alleles was discovered to have the biggest statistical similarity of two registers provided by C 07:01 (χ2=0.07), 08:02 (χ2=0.15), 15:02 (χ2=0.23) 12:03 (χ2=0.76). The biggest difference in the distribution of locus C alleles between the two registers was in 06:02 (χ2=125.78) and C 03:02 (χ2=103.64).Conclusion. The overlap of HLA-antigens genetic variants distribution in Kazakhstan and global registers varies from 41 to 52% by loci (locus A - 50%, B - 52%, C - 48%, DRB1 - 51%, DQB1 - 41%, mean 48.4%, median 50%). Kazakhstan register contains information on unique HLA-antigens genetic variants not included in the general database, manifesting the need for national register development and its integration into the «Allele frequencies in Worldwide populations» register.