ASSOCIATION STUDY BETWEEN IDIOPATHIC SCOLIOSIS AND MTNR1B AND CHD7 GENE POLYMORPHISMS IN BULGARIAN PATIENTS

Svetla Nikolova, Vasil Yablanski, Evgeni Vlaev, Alexey Savov, Ivo Kremensky
2015 Science & Technologies   unpublished
Idiopathic scoliosis (IS) is a primary complex three-dimensional deformity that affects the spine's balance in the frontal plane, and the sagittal and axial planes. A number of studies have examined the role of genetic factors in the development and progression of IS. We conducted a case-control study aimed to investigate the association between 2 single nucleotide polymorphisms in 2 candidate-genes: MTNR1B (rs4753426) and CHD7 (rs4738824) and the predisposition to IS in Bulgarian patients. DNA
more » ... arian patients. DNA probes were extracted from peripheral blood of 94 patients with IS and 188 unrelated healthy controls. The genetic variants were analyzed by Fast Real-Time TaqMan PCR technology. The statistical analysis was performed by Pearson's Chi-squared test with SPSS 19.0 for Windows. This case-control study didn't reveal statistically significant association between CHD7 and MTNR1B gene polymorphisms and the susceptibility to IS among Bulgarian patients. The genotype and allele frequencies of the MTNR1B and CHD7 gene polymorphisms were comparable in patients and controls (p>0.05). A much larger population-based case control study will be needed to investigate the contribution of these polymorphic variants to the development and progression of IS. The identification of molecular markers with diagnostic and prognostic value could be a useful means for the early detection of children at risk for the development of IS and for prognosis of the risk for a rapid deformity progression in affected children. That would permit prophylaxis and early stage treatment of the patient with the least invasive procedures.
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