HLA Alleles and Haplotypes Frequency in the Population of the Republic of Tatarstan, Russia

Inroduction HLA matching is essential for selection of the best matched tissue transplant donors. Only 30% of blood relatives are suitable to be the donor, making the need for non-relative matched donors a significant issue in transplantation. In response to an increased need for the HLA compatible donors of the hematopoietic stem cells, Kazan Federal University together with the «Rusfond» Charity established the «Rusfond. Register», a thoroughly characterized registry of the potential bone marrow donors. The goal of the «Rusfond. Register» is to create the regional register of the donors in the Republic of Tatarstan as a part of the National register of Russian Federation. Matherials and methods Blood samples from 483 potential bone marrow donors were collected. The Institutional Review Board of the Kazan Federal University approved this study and informed consent was obtained from each study subject according to the guidelines approved under this protocol (article 20, Federal Law "Protection of Health Rights of Citizens of Russian Federation" N323-FZ, 11.21.2011). DNA was extracted using «PROTRANS DNA Box 500» (PROTRANS, Germany) kit according to the manufacturer's instructions. Human leukocyte antigen (HLA) genotype was analyzed using SSP-PCR Cyclerplate System «PROTRANS HLA-A*/B*/Cw*» and «PROTRANS HLA-DRB1*/DQB1*» according to the manufacturer's protocols. Allele frequencies and genotypes for five HLA-loci were calculated. Haplotype frequencies were determined by expectation maximization algorithm and the Hardy-Weinberg equilibrium verification was carried out using Arlequin ver. 3.5 software (Excoffier et al, 2005). Results and discussion Five HLA-loci genotypes (HLA-A, -B, -C, -DRB1, and -DQB1) were examined, where there number of each allele families was as follows: 18 - A*, 27 - B*, 14 - C*, 13 - DRB1* and 5 - DQB1*. However, rare alleles (A*74, A*80, B*59, B*67, B*73, B*78), previously reported in Russia were not detected. The highest frequency alleles were: A* - А*02 (30.12%), А*03 (14.39%), А*24 (11.80%), A*01 (11.59%); B* - B*35 (12.53%), B*07 (10.46%), B*44 (8.90%); C* - C*07 (26.29%), C*04 (14.08%), C*06 (11.90%), C*12 (11.59%), C*03 (9.73%); DRB1* - DRB1*07 (14.91%), DRB1*13 (13.77%), DRB1*15 (13.77%), DRB1*11 (12.63%), DRB1*01 (11.59%), DRB1*04 (10.77%) and DQB1* - DQB1*03 (34.78%) (Fig. 1). Allele frequency among bone marrow donors in the Republic of Tatarstan was similar to that observed in different Caucasian populations (Novac et al, 2008; Lima et al, 2013). Interestingly, low frequency of alleles specific for Mongoloids was found within the bone marrow donors in Republic of Tatarstan. Also, the frequency of haplotypes was examined. Among three-locus HLA-A-B-DRB1, the highest frequency was A*03-B*35-DRB1*01 haplotype (3.33%), followed by A*01-B*08-DRB1*03 (2.80%), A*02-B*13-DRB1*07 (2.26%) and A*24-B*07-DRB1*15 (2.04%). The frequency of these haplotypes closely resembles those observed within the Russian and Tatar populations in Chelyabinsk Region of Russia (Suslova et al, 2012). Conclusion Our data suggests that HLA-allele and haplotype profiles of bone marrow donors in the Republic of Tatarstan are closely resemble the Caucasian profile. Obtained data will be useful for the analysis of HLA-allele distribution in the Republic of Tatarstan and Russia as well as for the optimization of an initial screening for the bone marrow donor in the region.

This study was supported by the Russian Government Program of Competitive Growth of Kazan Federal University and «Rusfond». RAA was supported by state assignment 20.5175.2017/6.7 of the Ministry of Education and Science of Russian Federation.

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