title: In Search of Biomarkers for Idiopathic Scoliosis: Leptin and BMP4 Functional Polymorphisms.
abstract: Idiopathic scoliosis (IS) is the most common spinal disorder in children and adolescents. The current consensus on IS maintains that it has a multifactorial etiology with genetic predisposition factors. In the present study the association of two functional polymorphisms of leptin (rs7799039) and BMP4 (rs4898820) with susceptibility to IS and curve severity was investigated in a Bulgarian population sample. The molecular detection of the genotypes was performed by amplification followed by restriction technology. The statistical analysis was performed by Pearson's chi-squared test. This case-control study revealed no statistically significant association between the functional polymorphisms of leptin and BMP4 and susceptibility to IS or curve progression (p > 0.05). On the basis of these results the examined polymorphic variants of leptin and BMP4 could not be considered as genetic variants with predisposition effect or as risk factors for the progression of the curve. In addition, these results do not exclude a synergistic effect of the promoter polymorphisms of leptin and BMP4 in the etiology and pathogenesis of IS. 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.
authors: National Genetic Laboratory, Department of Obstetrics and Gynecology, Faculty of Medicine, Medical University, Sofia, 2 Zdrave Street, 14 Floor, 1431 Sofia, Bulgaria.
authors: Svetla
authors: S
authors: Nikolova
authors: Tokuda Hospital Sofia, Orthopedic and Traumatology Clinic, 51B Nikola Vaptsarov Boulevard, 1407 Sofia, Bulgaria.
authors: Vasil
authors: V
authors: Yablanski
authors: Tokuda Hospital Sofia, Orthopedic and Traumatology Clinic, 51B Nikola Vaptsarov Boulevard, 1407 Sofia, Bulgaria.
authors: Evgeni
authors: E
authors: Vlaev
authors: National Genetic Laboratory, Department of Obstetrics and Gynecology, Faculty of Medicine, Medical University, Sofia, 2 Zdrave Street, 14 Floor, 1431 Sofia, Bulgaria.
authors: Gergana
authors: G
authors: Getova
authors: National Genetic Laboratory, Department of Obstetrics and Gynecology, Faculty of Medicine, Medical University, Sofia, 2 Zdrave Street, 14 Floor, 1431 Sofia, Bulgaria.
authors: Ventseslav
authors: V
authors: Atanasov
authors: University Orthopedic Hospital "Professor Boycho Boychev", Medical University, Sofia, 56 Nikola Petkov Boulevard, 1614 Sofia, Bulgaria.
authors: Luben
authors: L
authors: Stokov
authors: National Genetic Laboratory, Department of Obstetrics and Gynecology, Faculty of Medicine, Medical University, Sofia, 2 Zdrave Street, 14 Floor, 1431 Sofia, Bulgaria.
authors: Alexey Slavkov
authors: AS
authors: Savov
authors: Molecular Medicine Center, Medical University, Sofia, 2 Zdrave Street, 14 floor, 1431 Sofia, Bulgaria.
authors: Ivo Marinov
authors: IM
authors: Kremensky