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Genetics Research International
Volume 2015, Article ID 852196, 6 pages
Research Article

Association Study between Idiopathic Scoliosis and Polymorphic Variants of VDR, IGF-1, and AMPD1 Genes

1National Genetic Laboratory, Department of Obstetrics and Gynecology, Faculty of Medicine, Medical University-Sofia, 2 Zdrave Street, 14th Floor, 1431 Sofia, Bulgaria
2Tokuda Hospital Sofia, Orthopedic and Traumatology Clinic, 51B Nikola Vaptsarov Boulevard, 1407 Sofia, Bulgaria
3University Orthopedic Hospital “Prof. Boycho Boychev”, Medical University-Sofia, 56 Nikola Petkov Boulevard, 1614 Sofia, Bulgaria
4Molecular Medicine Center, Medical University-Sofia, 2 Zdrave Street, 14th Floor, 1431 Sofia, Bulgaria

Received 13 July 2015; Accepted 18 August 2015

Academic Editor: Jerzy Kulski

Copyright © 2015 Svetla Nikolova et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Idiopathic scoliosis (IS) is a complex genetic disorder of the musculoskeletal system, characterized by three-dimensional rotation of the spine with unknown etiology. For the aims of the current study we selected 3 single nucleotide polymorphisms with a low incidence of the polymorphic allele in Bulgarian population, AMPD1 (rs17602729), VDR (rs2228670), and IGF-1 (rs5742612), trying to investigate the association between these genetic polymorphisms and susceptibility to and progression of IS. The polymorphic regions of the genes were amplified by polymerase chain reaction (PCR). The PCR products were cleaved with the appropriate restriction enzymes. The statistical analysis was performed by Pearson’s chi-squared test. A value of was considered to be statistically significant. In conclusion, this case-control study revealed no statistically significant association between the VDR, IGF-1, and AMPD1 polymorphisms and the susceptibility to IS or curve severity in Bulgarian patients. Replication case-control studies will be needed to examine the association between these candidate-genes and IS in different populations. The identification of molecular markers for IS could be useful for early detection and prognosis of the risk for a rapid progression of the curve. That would permit early stage treatment of the patient with the least invasive procedures.