Journal of Clinical and Experimental Investigations

Abstract

Objectives: The association studies are the predominant type of studies on genetics of the common diseases. The pre-sent case-control study aims to investigate the association between the promoter polymorphism TPH1 (rs10488682 T/A) and the predisposition to idiopathic scoliosis (IS) in a Bulgarian population sample.
Methods: A total of 105 patients and 210 healthy gender-matched controls were included. The TPH1 promoter poly-morphism was genotyped by amplification followed by restriction. The statistical analysis was performed by the Pear-son's chi-squared test and the Fisher’s exact test. A value of p less than 0.05 was considered statistically significant.
Results: The results indicated that TPH1 (rs10488682) is not associated with the susceptibility to IS, the onset of the disease, the family history or the gender. Based on these preliminary results, the examined polymorphic variant could not be considered as a predisposing factor for IS in Bulgarian patients.
Conclusions: Much larger case-control studies will be needed to examine the role of this TPH1 functional genetic vari-ant in the etiology and pathogenesis of IS in Caucasian population. The identification of molecular markers for IS could be useful for early detection of the predisposition among the relatives and for more accurate prognosis of the risk for a rapid progression of the curve in the affected children.