Association between Estrogen Receptor Alpha Gene Polymorphisms and Susceptibility to Idiopathic Scoliosis in Bulgarian Patients: A Case-Control Study.
BACKGROUND
The current consensus on idiopathic scoliosis maintains that it has a multifactorial etiology with genetic predisposing factors.


OBJECTIVE
Estrogen receptor alpha gene has been considered as candidate gene of idiopathic scoliosis.


METHODS
We conducted a case-control study of Bulgarian population samples (eighty patients with idiopathic scoliosis and one hundred-sixty healthy unrelated gender-matched controls) trying to investigate the association between common genetic polymorphisms of estrogen receptor alpha and the susceptibility to idiopathic scoliosis. Molecular detection of the restriction polymorphisms XbaI and PvuII was performed by polymerase chain reaction following by restriction fragment length polymorphism. The statistical analysis was performed by Pearson's chi-squared test.


RESULTS
Our case-control study showed statistically significant association between the PvuII polymorphism and susceptibility to idiopathic scoliosis and curve progression. No genotype or allele of XbaI polymorphism was found to be correlated with the onset or severity of the disease.


CONCLUSIONS
The identification of molecular markers with diagnostic and prognostic value could be useful for early detection of children at risk for the development of scoliosis and for prognosis of the risk for a rapid deformity progression. That would facilitate the therapy decisions and early stage treatment of the patient with the least invasive procedures.
Medical University-Sofia, National Genetic Laboratory, Sofia, Bulgaria.
Svetla
S
Nikolova
Tokuda Hospital Sofia, Orthopedic and Traumatology Clinic, Sofia, Bulgaria.
Vasil
V
Yablanski
Tokuda Hospital Sofia, Orthopedic and Traumatology Clinic, Sofia, Bulgaria.
Evgeni
E
Vlaev
University Orthopedic Hospital "Prof. Boycho Boychev", Orthopedic and Traumatology, Sofia, Bulgaria.
Luben
L
Stokov
Medical University-Sofia, National Genetic Laboratory, Sofia, Bulgaria.
Alexey
A
Savov
Medical University-Sofia, National Genetic Laboratory, Sofia, Bulgaria.
Ivo
I
Kremensky
Estrogen receptor alpha gene; Idiopathic Scoliosis; Polymorphisms; Progression; Susceptibility