Research for Genetic Factors Involved in Congenital Dislocation of Hip: Genome-wide Association Study in Grand West France
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 600
- 试验地点
- 1
- 主要终点
- Research for one or several genes involved in the congenital dislocation of hip by comparing the DNA from blood or saliva of patients and controls.
研究概览
简要总结
The main objective is to identify the genes involved in congenital dislocation of the hip.
The secondary objectives are to measure the association between mechanical risk factors and congenital dislocation of hip and study the interactions between these factors and genetic factors.
详细描述
Congenital hip dislocation (CHD) is one of the most frequent skeleton abnormalities in the Caucasian population (incidence: 2-10 / 1000). This disease results from an abnormality of the reports of the femoral head with the acetabulum, generated by a morphological defect of the cavity and / or joint hypermobility.
This condition is now defined as a multifactorial disease involving in the one hand, mechanical factors related to the conditions of pregnancy and childbirth, and secondly, genetic factors suggested by ethnic predisposition and familial aggregation observed. Despite the neonatal screening, CHD remains a public health problem because of its high frequency, because of the functional handicap which it leads in case of late diagnosis and of its natural evolution to coxarthrosis.
CHD was the object of a significant number of publications on the difficult aspects of its screening and treatment but, at the moment, few data are available on the genetic factors involved.
The genetic studies led on the CHD based on studies of case-control associations, focused on candidate genes, and genetic linkage analysis, two strategies classically used in genetic epidemiology.
To date, these strategies did not allow to elucidate the genetic determinism of the pathology.
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
- 3 Weeks 至 16 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Old patient at least of 3 weeks and under age 16 presenting a congenital pathology of hip defined by the following consensual criteria:
- •Ultrasound criteria: osseous Cover of the femoral head 50 % or Bottom cotyloïdien = 6 mm or Type III and IV of the classification of Graf
- •Radiographic criteria: acetabular angle = 30 ° or Absence of projection of the femoral pit in the infero-internal quadrant of the construction of Ombredanne or acetabular angle upper of more than 5 ° with regard to the healthy side (so reached unilateral)
- •Patient presenting family history of congenital hip dislocation
- •Patient of Caucasian origin
- •Signature of the consent
排除标准
- •Patient presenting anomalies of the collagen and/or the elastic tissue ( imperfect osteogenesis, syndromes of Ehlers-Danlos, Larsen and Marfan)
- •Patient presenting karyotype abnormalities
- •Refusal to participate
结局指标
主要结局
Research for one or several genes involved in the congenital dislocation of hip by comparing the DNA from blood or saliva of patients and controls.
时间窗: inclusion
The primary endpoint of the study is to sequence exome of patients affected by congenital dislocation of hip and of controls to identify one or several genes involved in the congenital dislocation of hip and compare the distribution of variants identified by exome sequencing between patients and controls.
次要结局
未报告次要终点