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

NCT06540924 | Completed

• 1 other identifier: 2022-14/18
• Study Type: observational
• Target: 301
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Adolescent Idiopathic Scoliosis; Single Nucleotide Polymorphisms

Keywords

Adolescent idiopathic scoliosis; genetic; single nucleotide polymorphism

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (2)

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

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

Interventions

single nucleotide polymorphisms OTHER

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; Study group

Eligibility Criteria

• Age: 10 Years - 18 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Individuals applying to Uludag University Orthopedics and Traumatology polyclinic.

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Uludag University: lead

Study Sites (1)

Uludag University

Bursa, 16059, Turkey (Türkiye)

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples were collected from patients and control individuals using purple-capped EDTA tubes, with 2 tubes per person (totaling 6 cc). The samples were stored at -80°C until the DNA isolation process. DNA was isolated from the collected blood samples, followed by DNA quality assessment. Subsequently, analysis was conducted using primers for the SNP (single nucleotide polymorphism) regions under study on a Real-Time Polymerase Chain Reaction (RT-PCR) device.

MeSH Terms

Interventions

Polymorphism, Single Nucleotide

Intervention Hierarchy (Ancestors)

Polymorphism, Genetic; Genetic Variation; Genetic Phenomena

Study Officials

• Erkan Bilgin, Doctor

  Uludag University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Specialist medical doctor

Study Record Dates

• First Submitted: July 30, 2024
• First Posted: August 6, 2024
• Study Start: July 8, 2022
• Primary Completion: December 8, 2022
• Study Completion: July 8, 2023
• Last Updated: August 9, 2024

Record last verified: 2024-08

Data Sharing

• IPD Sharing: Will not share

Locations

TU (1)