An observational study in Adolescent Idiopathic Scoliosis and Single Nucleotide Polymorphisms, sponsored by Uludag University. Completed at 1 site in Turkey. Open to participants aged 10 Years to 18 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2024-08-09.
Sponsored by Uludag University · Observational
Adolescent Idiopathic Scoliosis (AIS) is a common disease of the spine observed in individuals aged 10-18 who typically do not have any other health issues. Despite numerous genetic studies conducted across different ethnic groups worldwide, the specific genes contributing to the development of scoliosis have not yet been definitively identified. Therefore, the aim of our study is to investigate whether there is an etiological relationship between AIS and the polymorphisms of the LBX1 (rs11190870, rs625039, rs11598564), TIMP2 (rs8179090), GPR126 (rs6570507), and CHD7 (rs121434341) genes in the Turkish population and to determine the relationship of these polymorphisms with gender, age, age at diagnosis and Cobb angle in these patients.
This prospective genetic research was conducted Bursa Uludag University Faculty of Medicine, Department of Orthopedics and Traumatology. A total of 301 individuals were included in the study, comprising 201 patients aged 10-18 years diagnosed with AIS and Cobb angle of 10 degrees or more on direct radiography, no known genetic disorders and no diseases known to play a role in the etiology of scoliosis and 100 healthy controls aged 10-18 years without a diagnosis of scoliosis based on physical examination and/or imaging. In the study, the LBX1, TIMP2, GPR126 and CHD7 gene polymorphisms in AIS patients and the control group were analyzed using real-time PCR with TaqMan probe SNP (single nucleotide polymorphism) primers (rs625039, rs11598564, rs6570507, rs121434341, rs11190870, rs8179090). Subsequently, the SNP regions were confirmed by DNA sequence analysis. The obtained findings were statistically analyzed.
594 studies on the registry are indexed under Scoliosis; 139 are open to participants now.
This study's enrollment of 301 is above the median of 89 across 233 observational studies indexed under Scoliosis.
Browse Scoliosis studies →Uludag University is the lead sponsor of 141 studies on the registry; 39 are open to participants now.
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Individuals applying to Uludag University Orthopedics and Traumatology polyclinic.
Study group
Control group
Exclusion Criteria:
Study group
Control group
Being diagnosed with Adolescent Idiopathic Scoliosis (AIS) between the ages of 10 and 18 group. Having a Cobb angle of 10 degrees or greater on a plain radiograph. Not having any known genetic disorders. Not having any diseases known to play a role in the etiology of scoliosis (degenerative, neuromuscular, congenital scoliosis, etc., are excluded).
Other: single nucleotide polymorphisms
Healthy individuals between the ages of 10-18 who do not have scoliosis by physical examination and/or imaging.
Other: single nucleotide polymorphisms
The LBX1 (Ladybird Homeobox 1), TIMP2 (Tissue Inhibitor of Metalloprotease 2), GPR126 (G Protein-Coupled Receptor 126) and CHD7 (Chromodomain Helicase DNA Binding Protein 7) gene polymorphisms in adolescent idiopathic scoliosis patients and the control group were analyzed using real-time PCR with TaqMan probe SNP (single nucleotide polymorphism) primers (rs625039, rs11598564, rs6570507, rs121434341, rs11190870, rs8179090).
Investigation of LBX1, TIMP2, GPR126, and CHD7 Gene Polymorphisms in 201 Turkish Adolescents With Idiopathic Scoliosis
Despite numerous genetic studies conducted across different ethnic groups worldwide, the specific genes contributing to the development of scoliosis have not yet been definitively identified. Therefore, the aim of investigator is to investigate whether there is an etiological relationship between adolescent idiopathic scoliosis and the polymorphisms of the LBX1 (rs11190870, rs625039, rs11598564), TIMP2 (rs8179090), GPR126 (rs6570507), and CHD7 (rs121434341) genes in the Turkish population.
Time frame: 12 months
Plan to share: No
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