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首页> 外文期刊>Osteoarthritis and cartilage >Do HOXB9 and COL1A1 genes play a role in congenital dislocation of the hip? Study in a Caucasian population.
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Do HOXB9 and COL1A1 genes play a role in congenital dislocation of the hip? Study in a Caucasian population.

机译：HOXB9和COL1A1基因在先天性髋关节脱位中起作用吗？在高加索人口中学习。

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OBJECTIVE: Congenital dislocation of the hip (CDH), which is one of the most common congenital skeletal disorders, corresponds to an abnormal seating of the femoral head in the acetabulum. It is commonly admitted that CDH presents a genetic component. However, little is known about the genetic factors involved. This study aimed to determine the role of two potential candidate genes on chromosome 17 in CDH: HOXB9 (involved in limb embryonic development) and COL1A1 (involved in joint laxity). METHOD: We set up a case-control association study (239 cases and 239 controls) in western Brittany (France) where CDH is particularly frequent. The set of informative single nucleotide polymorphisms (SNPs) in each gene was selected using Tagger and genotyped using the SNaPshot method (n=2 and n=10, respectively). The association was tested both through single-locus and haplotype-based analyses, using SAS and Haploview softwares. In addition, we carried out the transmission disequilibrium test (TDT) with the same polymorphisms from a sample of 81 trios (i.e., 81 patients included in the case-control study and their both parents). RESULTS: The case-control study revealed no significant association between CDH and the tagSNPs selected in both HOXB9 and COL1A1. Moreover, the TDT did not reveal distortion in allelic and haplotype transmission of the studied markers. CONCLUSION: Our study did not support an association between HOXB9 and COL1A1 and CDH in our population. These negative findings were obtained by population- and family-based designs. Analysis of the genetic component of CDH should focus on other candidate genes.
机译：目的：先天性髋关节脱位（CDH）是最常见的先天性骨骼疾病之一，对应于股骨头在髋臼中的异常就位。人们普遍承认CDH具有遗传成分。但是，对涉及的遗传因素知之甚少。这项研究旨在确定CDH第17号染色​​体上的两个潜在候选基因的作用：HOXB9（涉及肢体胚胎发育）和COL1A1（涉及关节松弛）。方法：我们在布列塔尼西部（法国）CDH尤其频繁的地区进行了病例对照研究（239例和239例对照）。使用Tagger选择每个基因中的信息性单核苷酸多态性（SNP）集合，并使用SNaPshot方法进行基因分型（分别为n = 2和n = 10）。使用SAS和Haploview软件通过单基因座分析和基于单倍型的分析对关联进行了测试。此外，我们对81个三重奏样本（即病例对照研究中包括的81名患者及其父母）的相同多态性进行了传输不平衡测试（TDT）。结果：病例对照研究显示CDH与HOXB9和COL1A1中选择的tagSNP之间无显着关联。此外，TDT并未揭示所研究标记的等位基因和单倍型传递中的畸变。结论：我们的研究不支持HOXB9与COL1A1与CDH之间的关联。这些负面发现是通过基于人口和家庭的设计获得的。 CDH遗传成分的分析应侧重于其他候选基因。

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