Genetic variability and structure of SNP haplotypes in the DMPK gene in Yakuts and other ethnic groups of northern Eurasia in relation to myotonic dystrophy

• Published in: Russian Journal of Genetics
• Main Authors: Swarovskaya, M. G., Marussin, A. V., Sukhomyasova, A. L., Maximova, N. R., Stepanov, V. A., Stepanova, S. K.
• Format: Article in Journal/Newspaper
• Language: English
• Published: 2015
• Subjects: якуты; этнические группы; Северная Евразия; генетическая изменчивость; гаплотипы; миотоническая дистрофия; Yakuts
• Online Access: https://doi.org/10.1134/S1022795415060150; http://vital.lib.tsu.ru/vital/access/manager/Repository/vtls:000578121

The genetic variability of the DMPK locus has been studied in relation to six SNP markers (rs2070736 rs572634 rs1799894 rs527221 rs915915 and rs10415988) in Yakuts with myotonic dystrophy (MD) in the Yakut population and in populations of northern Eurasia. Significant differences were observed in the allele frequencies between patients and a population sample of Yakuts for three SNP loci (rs915915 rs1799894 and rs0415988) associated with a high chance of disease manifestation. The odds ratios (OR) of MD development in representatives of the Yakut population for these three loci were 2.59 (95% CI p = 0,004) 4.99 (95% CI p = 0.000) and 3.15 (95% CI p = 0.01) respectively. Haplotype TTTCTC which is associated with MD and haplotype GTCCTT which was observed only in Yakut MD patients (never in MD patients of non-Yakut origin) were revealed. A low level of variability in the locus of DMRK gene in Yakuts (He = 0.283) compared with other examined populations was noted. An analysis of pairwise genetic relationships between populations revealed their significant differentiation for all the examined loci. In addition a low level of differentiation in territorial groups of Yakut populations (FST = 0.79%) which was related to the high subdivision of the northern Eurasian population (FST = 11.83%) was observed.