Study of locuses associated with osteoarthritis on the basis of the results of full genomic investigations (GWAS) among women from Bashkortostan


DOI: https://dx.doi.org/10.18565/therapy.2019.7.91-96

Shapovalova D.A., Tyurin A.V., Khusainova R.I.

1) Institute of biochemistry and genetic of Ufa Federal research Center of Russian Academy of Sciences, Ufa; 2) Bashkir State medical University of the Ministry of Healthcare of Russia
The aim of the research was to study the associations of rs4836732 (ASTN2), rs1298744 and rs2302061 (DOT1L), rs3204689 (ALDH1A2), rs6976 (GLT8D1), rs11177 (GNL3), rs6094710 (NCOA3), rs6168188 (RSF18747) polymorphic variants with formation to osteoarthritis (OA) predisposition in females from the Republic of Bashkortostan, taking into consideration the localization of the pathological process, the age of the onset of the disease and the presence of signs of undifferentiated connective tissue dysplasia (uDCT) in both comorbid and isolated states.
Material and methods. A replicative study of polymorphic loci associated by the results of a genome-wide analysis of associations (GWAS) in genes ASTN2, DOT1L, ALDH1A2, GLT8D1, GLN3, NCOA3, MCF2L, DVWA was performed in 256 females with OA and 161 control persons from the Republic of Bashkortostan.
Results. The significance of the loci rs2302061 (DOT1L), rs7639618 (DVWA), rs4836732 (ASTN2), rs6976 (GLT8D1), rs3204689 (ALDH1A2) in the formation of a predisposition to OA in the whole, as well as taking into account the presence of uDST signs and the localization of the disease process, its onset age was revealed.
Conclusion. The results of the study are having some importance for studying the genetic factors of OA both in isolated and comorbid with uDCT variants. However, due to the inconsistency of the obtained data, their further validation in independent samples is necessary.
Keywords: genes of predisposition, full genomic investigations (GWAS), osteoarthritis, polymorphism
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About the Autors

Daria A. Shapovalova, Junior Researcher of human molecular genetics laboratory of Institute of biochemistry and genetic of Ufa Federal research Center of RAS. Address: 450054, Ufa, 71/1E Oktyabrya Avenue. Tel.: +7 (347) 235-60-88; 8 (917) 430-54-41. E-mail: daria-ufa92@mail.ru
Anton V. Tyurin, PhD, head of the Department of hospital therapy No 2 of Bashkir State medical University of the Ministry of Healthcare of Russia. Address: 450008, Ufa, 3 Lenina Str. Tel.: +7 (927) 994-00-35. E-mail: anton.bgmu@gmail.com
Rita I. Khusainova, Doctor of biological science, visiting fellow of human molecular genetics laboratory of Institute of biochemistry and genetic of Ufa Federal research Center of RAS. Address: 450008, Ufa, 3 Lenina Str. Tel.: +7 (347) 235-60-88; 8 (987) 145-77-18. E-mail: ritakh@mail.ru


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