J Appl Biomed 17:184-189, 2019 | DOI: 10.32725/jab.2019.011

Positive association between a polymorphic locus near the LBX1 gene and predisposition of idiopathic scoliosis in Southeastern European population

Svetla Nikolova1,5, Milka Dikova2, Dobrin Dikov2, Assen Djerov2, Alexey Savov3, Ivo Kremensky4, Alexandre Loukanov5,*
1 Sofia University, Lozenetz University Hospital, Laboratory of Medical Genetics and Molecular Biology, Sofia, Bulgaria
2 Medical University - Sofia, University Orthopedic Hospital "Prof. Boycho Boychev", Sofia, Bulgaria
3 Medical University - Sofia, University Hospital "Maichin Dom", National Genetic Laboratory, Sofia, Bulgaria
4 Medical University - Sofia, Molecular Medicine Center, Sofia, Bulgaria
5 Saitama University, Graduate School of Science and Engineering, Division of Strategic Research, Saitama, Japan

Idiopathic scoliosis (IS) is a common medical condition in children, characterized by three-dimensional spinal curve and strong evidence of genetic predisposition. The purpose of the present case-control study is to examine the association between the polymorphic variant rs11190870 (T/C), near the LBX1 gene, and IS predisposition in distinct subgroups based on age at onset, family history and gender. A total of 127 IS patients and 254 unrelated controls of Southeastern European descent were recruited. The genotyping was carried out by TaqMan real-time amplification technology. The results were analyzed by the Pearson's Chi-squared Test and the Fisher's Exact Test with a value of p less than 0.05 as statistically significant. The T allele and homozygous TT genotype were associated with a greater incidence of IS. Our results suggest that there is a genetic association with IS in adolescents, familial and non-familial cases, and in females. Larger case-control studies are necessary to examine the genetic factors of IS/AIS etiology in infants, juveniles and males. In conclusion, the molecular genetic identification of diagnostic and prognostic molecular markers would make an early treatment including minimally invasive procedures possible.

Keywords: Association; Idiopathic scoliosis; LBX1 gene; Predisposition
Grants and funding:

The authors are thankful to all the participants and patients who contributed the present report. This research project was supported by the Medical University Sofia, Bulgaria [grant number 5D/2014, contract number 2D/2014].

Conflicts of interest:

The authors have no conflict of interests to disclose. All patients and parents provided informed consent.

Received: March 12, 2019; Accepted: June 19, 2019; Prepublished online: July 4, 2019; Published: September 18, 2019  Show citation

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Nikolova S, Dikova M, Dikov D, Djerov A, Savov A, Kremensky I, Loukanov A. Positive association between a polymorphic locus near the LBX1 gene and predisposition of idiopathic scoliosis in Southeastern European population. J Appl Biomed. 2019;17(3):184-189. doi: 10.32725/jab.2019.011. PubMed PMID: 34907700.
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