Advertisement

Cytology and Genetics

, Volume 52, Issue 1, pp 46–53 | Cite as

Role of the genetic component in osteopenic syndrome pathogenesis in children from regions with a polluted environment

  • N. R. KechEmail author
  • O. Z. Hnatejko
  • H. V. Makukh
  • N. S. Lukjanenko
  • O. L. Lychkovska
Article

Abstract

Molecular genetic data and the results of an instrumental examination (ultrasonic densitometry) in 125 children from regions with anthropogenic pollution of the environment and 31 control group children from an area with an unpolluted environment have been analyzed. The molecular-genetic approach was used to study TaqI and ApaI polymorphic loci of the vitamin D3 receptor gene. Osteopenia and osteoporosis diagnosis frequency was 1.5 times higher in children from regions with a polluted environment. A decrease of bone mineral density was most common in children with tt and Tt genotypes (100 and 45%, respectively) and those with AA and Aa genotypes (83 and 42%, respectively). This is in agreement with published data on lower values of this parameter being associated with the ttAA genotype. Comprehensive assessment of instrumental and clinical laboratory parameters of bone density in carriers of certain allelic variants of the TaqI (rs731236) and ApaI (rs739837) polymorphic loci of the vitamin D3 receptor gene has been performed.

Keywords

osteopenic syndrome mineral density of bone tissue VDR gene polymorphism ecologically unfavorable regions children 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Li, W.F., Hou, S.X., Yu, B., Li, M.M., Férec, C., and Chen, J.M., Genetics of osteoporosis: accelerating pace in gene identification and validation, Hum. Genet., 2010, vol. 127, no. 3, pp. 249–285.CrossRefPubMedGoogle Scholar
  2. 2.
    Shilina, N.M., Sorokina, E.Y., Ivanushkina, T.A., Safronova, A.I., Gmoshinskaya, M.V., and Kon, I.Y., The study of rs1800012 polymorphism of alpha1-chain collagen type 1 gene in Moscow women and children with different level of strength, Vopr. Pitan., 2015, vol. 84, no. 4, pp. 74–81.PubMedGoogle Scholar
  3. 3.
    Al-Moubarak, SamahH.S., Gender-specific association of vitamin D receptor polymorphism Bsmi with type 1 diabetes mellitus, Int. J. Pharm. Sci. Rev. Res., 2013, vol. 21, no. 2, pp. 254–257.Google Scholar
  4. 4.
    Haddad, Sh., Vitamin-D receptor (VDR) gene polymorphisms (Taq-I & Apa-I) in Syrian healthy population, Meta Gene, 2014, vol. 2, pp. 646–650.CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Tanabe, R., Kawamura, Y., Tsugawa, N., Haraikawa, M., Sogabe, N., Okano, T., Hosoi, T., and Goseki-Sone, M., Effects of Fok-I polymorphism in vitamin D receptor gene on serum 25-hydroxyvitamin D, bone-specific alkaline phosphatase and calcaneal quantitative ultrasound parameters in young adults, Asia Pac. J. Clin. Nutr., 2015, vol. 24, no. 2, pp. 329–335.PubMedGoogle Scholar
  6. 6.
    Singh, M., Singh, M., Singh, P., Singh, S., Juneja, P.K., and Kaur, K., A haplotype derived from the common variants at the–1997G/T and Sp1 binding site of the COL1A1 gene influences risk of postmenopausal osteoporosis in India, Rheumatol. Int., 2013, vol. 33, no. 2, pp. 501–506.CrossRefPubMedGoogle Scholar
  7. 7.
    Sassi, R., Sahli, H., Souissi, C., Sellami, S., Ben Ammar, El., and Gaaied, A., Polymorphisms in VDR gene in Tunisian postmenopausal women are associated with osteopenia phenotype, Climacteric, 2015, vol. 18, no. 4, pp. 624–630.Google Scholar
  8. 8.
    Kostik, M.M., Smirnov, A.M., Demin, G.S., Mnuskina, M.M., Scheplyagina, L.A., and Larionova, V.I., Genetic polymorphism of collagen type I α1 chain (COL1A1) gene increase the frequency of low bone mineral density in the subgroup of children with juvenile idiopathic arthritis, EPMA J., 2013, vol. 4, no. 1, p. 15.CrossRefPubMedPubMedCentralGoogle Scholar
  9. 9.
    Jin, H., Evangelou, E., Ioannidis, J.P., and Ralston, S.H., Polymorphism in the 5' flank of COL1A1 gene and osteoporosis: meta-analysis of published studies, Osteoporos. Int., 2011, vol. 22, no. 3, pp. 911–921.CrossRefPubMedGoogle Scholar
  10. 10.
    Erdogan, M.O., Yıldız, H., Artan, S., Solak, M., Taşcıoğlu, F., Dündar, U., Eser, B., and Colak, E., Association of estrogen receptor alpha and collagen type I alpha 1 gene polymorphisms with bone mineral density in postmenopausal women, Osteoporos. Int., 2011, vol. 22, no. 4, pp. 1219–1225.CrossRefPubMedGoogle Scholar
  11. 11.
    Kurt-Sirin, O., Yilmaz-Aydogan, H., Uyar, M., Seyhan, M.F., Isbir, T., and Can, A., Combined effects of collagen type I alpha 1 (col1a1) sp1 polymorphism and osteoporosis risk factors on bone mineral density in Turkish postmenopausal women, Gene, 2014, vol. 540, no. 2, pp. 226–231.CrossRefPubMedGoogle Scholar
  12. 12.
    Kotova, S.M., Karlova, N.A., Maksimtseva, I.M., and Zhorina, O.M., Decrease in the skeleton development rate—a nonspecific response of the bone system to various pathological states, Genii Ortopedii, 2002, no. 1, pp. 63–67.Google Scholar
  13. 13.
    Barilyak, I.R. and Dugan, O.M., Ecological-genetic investigations in Ukraine, Cytol. Genet., 2002, vol. 36, no. 5, pp. 1–8.Google Scholar
  14. 14.
    Nagornaya, N.V., Antioxidant status in children living under adverse environmental conditions and the possibilities of their correction, Zdorovye Rebenka, 2010, no. 1 (22), pp. 66–70.Google Scholar
  15. 15.
    Povoroznyuk, V.V. and Vilenskiy, A.B., Structural and functional state of bone tissue in Ukrainian children and adolescents according to ultrasound densitometry data, Vestnik Fizioter. Kurortolog., 2003, no. 1, pp. 92–94.Google Scholar
  16. 16.
    Krieg, M.-A., Barkmann, R., Gonnelli, S., Stewart, A., Bauer, D.C., Del Rio, BarqueroL., Kaufman, J.J., Lorenc, R., Miller, P.D., Olszynski, W.P., Poiana, C., Schott, A.M., Lewiecki, E.M., and Hans, D., Quantitative ultrasound in the management of osteoporosis: the 2007 ISCD Official Positions, J. Clin. Densitom., 2008, vol. 11, no. 1, pp. 163–187.CrossRefPubMedGoogle Scholar
  17. 17.
    Povoroznyuk, V.V., Klimovitskiy, F.V., Balatska, N.I., and Povoroznyuk, V.V., Structural and functional status of bone tissue, anthropometric indices, and biological age of boys in northern areas of Donetsk region, Travma, 2010, vol. 11, no. 1, pp. 5–12.Google Scholar
  18. 18.
    Zbroy, L.O., Environment of Ivano-Frankivsk Region: Collected Statistical Papers, Ivano-Frankivsk, 2004.Google Scholar
  19. 19.
    Cobman, W.B. and Tsongalis, G.J., Molecular Diagnostics: For the Clinical Laboratorian, Totowa: Humana Press, 2006.Google Scholar
  20. 20.
    Borovikov, V., Statistica: iskusstvo analiza dannyih na kompyutere. Dlya professionalov (Statistics: Art of Computer Data Analysis. For Professionals), St. Petersburg: Piter, 2001.Google Scholar
  21. 21.
    Kech, N.R., Characteristics of the state of the bone system in children from pollution-free and polluted regions according to ultrasound densitometry data, Lviv. Klin. Visnyk, 2015, no. 1 (9), pp. 14–18.CrossRefGoogle Scholar

Copyright information

© Allerton Press, Inc. 2018

Authors and Affiliations

  • N. R. Kech
    • 1
    Email author
  • O. Z. Hnatejko
    • 1
  • H. V. Makukh
    • 1
  • N. S. Lukjanenko
    • 1
  • O. L. Lychkovska
    • 1
  1. 1.Institute of Hereditary PathologyNational Academy of Medical Sciences of UkraineLvivUkraine

Personalised recommendations