Investigation of LBX1, TIMP2, GPR126 and CHD7 Gene Polymorphisms in Adolescent Idiopathic Scoliosis Patients
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 301
- 试验地点
- 1
- 主要终点
- Investigation of LBX1, TIMP2, GPR126, and CHD7 Gene Polymorphisms in 201 Turkish Adolescents With Idiopathic Scoliosis
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 10 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Study group
- •Being diagnosed with Adolescent Idiopathic Scoliosis (AIS) between the ages of 10 and
- •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
排除标准
- •Study group
- •Those diagnosed with non-idiopathic scoliosis.
- •Individuals who develop scoliosis after the age of
- •Individuals with scoliosis under the age of
- •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.
结局指标
主要结局
Investigation of LBX1, TIMP2, GPR126, and CHD7 Gene Polymorphisms in 201 Turkish Adolescents With Idiopathic Scoliosis
时间窗: 12 months
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.
次要结局
未报告次要终点
研究者
Erkan Bilgin
Specialist medical doctor
Uludag University