Replicative analysis of polymorphic loci associated with osteoarthritis based on the full genomic studies results

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Doklady Bashkirskogo Universiteta. 2018. Volume 3. No. 4. pp. 477-482.

Authors

Shapovalova D. A.*
Institute of Biochemistry and Genetics of the Ufa Federal Research Centre of the Russian Academy of Sciences
71 Oktyabrya Avenue, 450054 Ufa, Republic of Bashkortostan, Russia
Tyurin A. V.
Bashkir State Medical University
3 Lenina Street, 450000 Ufa, Republic of Bashkortostan, Russia
Khusainova R. I.
Institute of Biochemistry and Genetics of the Ufa Federal Research Centre of the Russian Academy of Sciences
71 Oktyabrya Avenue, 450054 Ufa, Republic of Bashkortostan, Russia

Abstract

Osteoarthritis (OA) is a multifactorial disease, which is characterized by destruction of all components of joint. One of the factors predisposing to the development of OA is undifferentiated connective tissue dysplasia (uCTD), which is caused by defects in the synthesis or catabolism of extracellular matrix components. We analyzed 6 polymorphic loci of CHST11, DVWA, ASTN2, MCF2L, GLT8D1, DOT1L genes among 156 OA cases and 161 controls of women from the Republic of Bashkortostan, and associations of polymorphic loci rs835787 (CHST11) , rs4836732 (ASTN2) , rs7639618 (DVWA), rs2302061 (DOT1L) with OA, OA with uCTD signs, knee OA, and hip OA was revealed.

Keywords

  • GWAS
  • osteoarthritis
  • polymorphism
  • full genomic investigations
  • genes of predisposition
  • GWAS
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