Investigation of LBX1, TIMP2, GPR126 and CHD7 Gene Polymorphisms in Adolescent Idiopathic Scoliosis Patients

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.

Study Overview

• Status: Completed
• Conditions: Adolescent Idiopathic Scoliosis; Single Nucleotide Polymorphisms
• Intervention / Treatment: Other: single nucleotide polymorphisms

Detailed Description

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.

• Study Type: Observational
• Enrollment (Actual): 301

Contacts and Locations

Study Locations

• Turkey
  • Bursa, Turkey, 16059
    • Uludag University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Individuals applying to Uludag University Orthopedics and Traumatology polyclinic.

Description

Inclusion Criteria:

Study group

• Being diagnosed with Adolescent Idiopathic Scoliosis (AIS) between the ages of 10 and 18.
• 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).

Control group

• Healthy individuals who have not been diagnosed with scoliosis by physical examination and/or imaging.
• Being between the ages of 10-18

Exclusion Criteria:

Study group

• Those diagnosed with non-idiopathic scoliosis.
• Individuals who develop scoliosis after the age of 18.
• Individuals with scoliosis under the age of 10.
• Those diagnosed with a genetic disease.
• Those diagnosed with any disease known to play a role in the etiology of scoliosis.

Control group

• Those who have physical examination suspicion of scoliosis.
• Those with a Cobb angle of 10 degrees or more on plain radiographs.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Study 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; 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).
Control group; 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).

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	12 months

Collaborators and Investigators

• Sponsor: Uludag University
• Investigators: Principal Investigator: Erkan Bilgin, Doctor, Uludag University

Study record dates

Study Major Dates

• Study Start (Actual): July 8, 2022
• Primary Completion (Actual): December 8, 2022
• Study Completion (Actual): July 8, 2023

Study Registration Dates

• First Submitted: July 30, 2024
• First Submitted That Met QC Criteria: August 2, 2024
• First Posted (Actual): August 6, 2024

Study Record Updates

• Last Update Posted (Actual): August 9, 2024
• Last Update Submitted That Met QC Criteria: August 7, 2024
• Last Verified: August 1, 2024

More Information

Terms related to this study

• Keywords: genetic; single nucleotide polymorphism; Adolescent idiopathic scoliosis
• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Spinal Diseases; Bone Diseases; Spinal Curvatures; Scoliosis
• Other Study ID Numbers: 2022-14/18

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No