Frequency evaluation of the genetic variant marking hla-dq2.5 associated with risc of celiac disease in the Russian Federation
I.S. Kolesnikova1, N.S. Shirokova1, V.S. Kushnarenko1, N.V. Panteleeva1, A.A. Mamchits1, A.S. Mezhevalova1, A.A. Sivakova1, I.A. Nikitin2, A.I. Kuzin3, O.V. Kamerer3, V.V. Polunovskiy1
1National Center for Genetic Research, 12 Nikolaeva Str., Novosibirsk, 630090, Russian Federation
2Plekhanov Russian University of Economics, 36 Stremyannyi per., Moscow, 115054, Russian Federation
3South Ural State Medical University, 64 Vorovskogo Str., Chelyabinsk, 454092, Russian Federation
Published data on prevalence of genetic predisposition to celiac disease in the Russian Federation (RF) are scarce and limited to local populations; moreover, they are mainly based on studies conducted in patients already affected by the disease. This makes it difficult to comprehensively assess prevalence of risk-associated variants in the general Russian population. Moreover, there is very little available information on prevalence of these variants in post-Soviet countries.
We analyzed frequencies of rs2187668 in an intron of an HLA-DQ2.5 gene (A allele is a marker of the HLA-DQ2.5 haplotype) across the Russian Federation (RF) and several post-Soviet countries.
DNA was obtained from buccal epithelial samples of 33,773 individuals. Genotyping was performed using real-time polymerase chain reaction (PCR) with hybridization-fluorescence signal detection.
The average prevalence of the HLA-DQ2.5 variant was 8.49 % within the RF, ranging from 5.13 % in the Astrakhan Region to 18.06 % in the Kostroma Region. The observed frequencies in the RF are comparable to those reported in European populations (1000 Genomes). The frequency of the rs2187668 A allele (HLA-DQ2.5) was higher than in East Asia and comparable to that in South Asia (1000 Genomes). Regions of the RF identified as having an elevated risk of celiac disease include those where the frequency of the risk-associated allele exceeds 13 % (Kostroma, Lipetsk, Yaroslavl, and Smolensk Regions; Republic of North Ossetia; Republic of Mari El). Among the studied post-Soviet countries, the highest frequency of HLA-DQ2.5 was found in Kazakhstan (11.38 %, significantly higher than in the RF), and the lowest in Belarus (8.33 %). The variant frequencies in Belarus and Ukraine were comparable to those in the RF.
This large-scale study is the first to provide data on distribution of HLA-DQ2.5 genotype and allele frequencies across the RF and its regions. It also presents the first published data on the frequencies of HLA-DQ2.5 genotypes and alleles in Belarus, Ukraine, and Kyrgyzstan.
fcrisk.ru
