Polymorphic variants of genes type I collagen (COL1A1), calcitonin receptors (CALCR) and vitamin D (VDR) and the parameters of teenagers musculoskeletal system in the Primorsky Territory
https://doi.org/10.25789/YMJ.2020.69.02
Abstract
The prevalence of nucleotide sequence variants of genes collagen COL1A1 rs1800012 IVS1 c.2046 G> T, and receptors of calcitonin CALCR rs1801197 c.1377 T> C and the intracellular vitamin D VDR rs731236 c.1056 T> C in healthy teenagers of the Primorsky Territory was studied in correlation with physiological parameters of the musculoskeletal system status. Genetic testing made it possible to identify the prevalence of “unfavorable” alleles and their combinations in the studied genes, regulating calcium metabolism in teenagers, and to determine the relationship between genotypes and the presence of fractures and impaired posture, that allowed distinguishing a group of subjects with a high risk of developing MSS diseases.
Keywords
gene of type I collagen,
gene of calcitonin receptor,
gene of vitamin D receptor,
musculoskeletal system
Supporting agencies: The study was financially supported by the Pacific State Medical University as part of the implementation of the university grant.
About the Authors
N. G. Plekhova
Pacific State Medical University
Russian Federation
Russian Federation
PLEKHOVA Natalia G. – BD, Head of the Central Research Laboratory, Professor of the Department of Clinical Laboratory Diagnostics, General and Clinical Immunology
690002, Vladivostok, av. Ostryakova 2
E. V. Krukovich
Pacific State Medical University
Russian Federation
Russian Federation
KRUKOVICH Elena V. - MD, professor of the Institute of Pediatrics
690002, Vladivostok, av. Ostryakova 2
D. A. Kablukov
Pacific State Medical University
Russian Federation
Russian Federation
KABLUKOV Denis A. – Postgraduate Student, Institute of Pediatrics
690002, Vladivostok, av. Ostryakova 2
T. A. Shumatova
Pacific State Medical University
Russian Federation
Russian Federation
SHUMATOVA Tatyana A. - MD, professor, director of the Institute of Pediatrics
690002, Vladivostok, av. Ostryakova 2
V. S. Eliseeva
Pacific State Medical University
Russian Federation
Russian Federation
ELISEEVA Victoria S. - Researcher at the Central Research Laboratory
690002, Vladivostok, av. Ostryakova 2
References
1. Baranov A.A. Age-related features of changes in biochemical markers of bone remodeling in children / A.A. Baranov, L.A. Scheplyagina, M.I. Bakanov //Russian pediatric magazine. – 2002. - №3- P. 7-12.
2. Baranov V.S. Determination of hereditary predisposition to some common diseases during pregnancy. Genetic map of reproductive health. Guidelines / V.S. Baranov, T.E. Ivashchenko, A.S. Glotov // Journal of Obstetrics and Women's Diseases. Annex. - 2009. – 25 p.
3. Genetic predictors of proximal femur fractures in women with osteoporosis of Krasnoyarsk / V.S. Mordovsky, E.V. Kapustina, A.S. Kents, S.Yu. Nikulina // Science of the 21 century. Problems and prospects. – 2016. - №1 (4). –P. 29-31.
4. The study of polymorphism rs11801197 of the calcitonin receptor gene (CALCR) in women and children of Moscow with different levels of bone strength / N.M. Shilina, E.Yu. Sorokina, T.A. Ivanushkina [et al.] // Nutrition issues. – 2007. - №86 (1). – P. 28–34.
5. Mirskaya N. Diagnosis of disorders and diseases of the musculoskeletal system of modern students: approaches, terminology, classification / N. Mirskaya, A. Kolomenskaya // Questions of modern pediatrics. – 2009. - №8 (3). – P. 10-13.
6. Causes of formation and risk factors for pathology of the musculoskeletal system in children and adolescents / E.V. Krukovich, N.A. Dogadina, D.A. Kablukov, N.G. Plekhova //Modern problems of science and education. – 2017. - №5. – P.54-62.
7. Repina I.V. The mineral density of the bones of the skeleton of children and adolescents / I.V. Repina, A.A. Sveshnikov, T.A. Larionova /The genius of orthopedics. – 2008. -№2. – P. 108-113.
8. Khusainova R. Search for genetic markers of osteoporetic fractures in women / R. Khusainova, E.K. Khusnutdinova // Osteoporosis and osteopathy. – 2006. - №19 (2). – P. 36-40. https://doi.org/10.14341/osteo2016236-36
9. Sheplyagina L.A. Clinical evaluation of bone mass in children / L.A. Sheplyagina, T.Yu. Moiseeva, I.V. Kruglova //Scientific and Practical Rheumatology. – 2005. - №1. – P. 79–84.
10. Yatsenko A.K. The influence of potential risk factors on the formation of the biological maturity of the child's organism in the conditions of the modern city of Russia / A.K. Yatsenko, L.V. Trankovskaya, I.L. Ivanova //Pacific Medical Journal. – 2016. -№3 (65). –P. 21-24. DOI: 10.17238/PmJ1609-1175.2016.3.21–25.
11. Association between calcitonin receptor AluI gene polymorphism and bone mineral density: A meta-analysis / Q. Xiong, L. Xin, L. Zhang [et al.] // Exp Ther Med. – 2015. – Vol. 9 (1). – P. 65–76. DOI: 10.3892/etm.2014.2083
12. Associations between VDR Gene Polymorphisms and Osteoporosis Risk and Bone Mineral Density in Postmenopausal Women: A systematic review and Meta-Analysis / L. Zhang, X. Yin, J. Wang [et al.] // Sci Rep. 2018; 8(1):981. DOI: 10.1038/s41598-017-18670-7.
13. Association of calcium and phosphate balance, Vitamin D, PTH, and calcitonin in patients with adolescent idiopathic scoliosis / A. Gozdzialska, M. Jaskiewicz, Knapik-Czajka [et al.] // Spine (Phila Pa 1976). – 2016. – Vol. 41(8). – P. 693-697. DOI: 10.1097/BRS.0000000000001286.
14. COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfect / K. Lindahl, A.M. Barnes, N. Fratzl-Zelman [et al.] // Hum Mutat. – 2011. – Vol. 32(6) – P. 598-609. DOI: 10.1002/humu.21475.
15. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans / JC Marini, A. Forlino, WA Cabral [et al.] // Hum. Mutat. Mar. – 2007. – Vol. 28(3). – P. 209-221. DOI: 10.1002/humu.20429
16. Dehghan M. Calcitonin receptor AluI (rs1801197) and Taq1 calcitonin genes polymorphism in 45-and over 45-year-old women and their association with bone density / M. Dehghan, R. Pourahmad-Jaktaji, Z. Farzaneh // Acta Inform Med. – 2016. – Vol. 24(4). – P. 239-243. DOI:10.5455/aim.2016.24.239-243
17. Genetics and biology of vitamin D receptor polymorphisms: Review / A.G. Uitterlinden, Y. Fang, J.B.J. van Meurs [et al.] // Gene. – 2004. – Vol. 338. – P.143–156. DOI: 10.1210/jc.2008-1575
18. Genetic polymorphisms 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 / M.M. Kostik, A.M. Smirnov, G.S. Demin [et al.] // EPMA J. – 2013 – Vol. 4(1). – P. 15. DOI: 10.1186/1878-5085-4-15.
19. Human calcitonin receptor-like receptor for adrenomedullin: genomic structure, eight single-nucleotide polymorphisms, and haplotype analysis / I. Nakazawa, T. Nakajima, H. Harada [et al.] // J Hum Genet. – 2001. – Vol. 46(3). - P.132-136. DOI: 10.1007/s100380170100
20. Influence of biological factors on injuries occurrence in the Polish population / M. Stepien-Slodkowska, K. Ficek, M. Kaczmarczyk [et al.] // Ann Agric Environ Med. – 2016. – Vol. 23(2). P. 315-318. DOI: 10.5604/12321966.1203897
21. The study of rs1800012 polymorphism of alpha1-chains of collagen type 1 gene in Moscow women and children with different level of bone strength / N.M. Shilina, E.Yu. Sorokina, T.A. Ivanushkina [et al.] // Voprosy pitaniia [Problems of Nutrition]. – 2015. – Vol. 84(4). – P. 74–82.
22. The use of clinical risk factors enhances the performance of BMD in the prediction of hip and osteoporotic fractures in men and women / J.A. Kanis, H. Johansson, A. Oden [et al.] // Osteoporos. Int. – 2007. – Vol. 18(8). – P.1033-1046. DOI: 10.1007/s00198-007-0343-y
23. Vitamin D activation of functionally distinct regulatory miRNAs in primary human osteoblasts / T.S. Lisse, R.F. Chun, S. Rieger, [et al.] // J Bone Miner Res. – 2013. – Vol. 28 (6). – P. 1478–14788. DOI: 0.1002/jbmr.1882.
24. Vitamin D binding protein genotype is associated with serum 25-hydroxyvitamin D and PTH concentrations, as well as bone health in children and adolescents in Finland / M. Pekkinen, E. Saarnio, H.T. Viljakainen [et al.] // PLoS One. – 2014. – Vol. 9(1). – P. e87292. DOI: 10.1371/journal.pone.0087292. eCollection 2014.
25. Zhang H. Association of calcitonin receptor gene polymorphism with bone mineral density in postmenopausal Chinese women: a meta-analysis / H. Zhang, X. Tao, J. Wu // Arch Gynecol Obstet. – 2015. – Vol. 291(1). – P. 165-172. DOI: 10.1007/s00404-014-3378-2
Review
For citations:
Plekhova N.G., Krukovich E.V., Kablukov D.A., Shumatova T.A., Eliseeva V.S. Polymorphic variants of genes type I collagen (COL1A1), calcitonin receptors (CALCR) and vitamin D (VDR) and the parameters of teenagers musculoskeletal system in the Primorsky Territory. Yakut Medical Journal. 2020;(1):12-17. https://doi.org/10.25789/YMJ.2020.69.02
Views:
24
JATS XML
Email this article 