Table of Contents
Journal of Biomarkers
Volume 2016, Article ID 5318239, 5 pages
Research Article

Association Study between Promoter Polymorphism of TPH1 and Progression of Idiopathic Scoliosis

1Department of Orthopedics and Traumatology, Tokuda Hospital Sofia, 51B Nikola Vaptsarov Boulevard, 1407 Sofia, Bulgaria
2National Genetic Laboratory, Medical University-Sofia, 2 Zdrave Street, 14th Floor, 1431 Sofia, Bulgaria
3Molecular Medicine Center, Medical University-Sofia, 2 Zdrave Street, 14th Floor, 1431 Sofia, Bulgaria

Received 6 March 2016; Revised 10 April 2016; Accepted 3 May 2016

Academic Editor: Maria Dusinska

Copyright © 2016 Vasil Yablanski 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.


The concept of disease-modifier genes as an element of genetic heterogeneity has been widely accepted and reported. The aim of the current study is to investigate the association between the promoter polymorphism TPH1 (rs10488682) and progression of idiopathic scoliosis (IS) in Eastern European population sample. A total of 105 patients and 210 healthy gender-matched controls were enrolled in this study. The TPH1 promoter polymorphism was genotyped by amplification followed by restriction. The statistical analysis was performed by Fisher’s Exact Test. The results indicated that the genotypes and alleles of TPH1 (rs10488682) are not correlated with curve severity, curve pattern, or bracing. Therefore, the examined polymorphic variant could not be considered as a genetic factor with modifying effect of IS. In conclusion, this case-control study revealed no statistically significant association between TPH1 (rs10488682) and progression of IS in Eastern European population sample. These preliminary results should be replicated in extended population studies including larger sample sizes. The identification of molecular markers for IS could be useful for a more accurate 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.