PDF(Pubmed)
Abstract：
Diagnosis of developmental dysplasia of the hip (DDH) mostly relies on physical examination and ultrasound, and both methods are operator-dependent. Late detection can lead to complications in young adults. Current evidence supports the involvement of environmental and genetic factors, such as single nucleotide variants (SNVs). Incorporating genetic factors into diagnostic methods would be useful for implementing early detection and management of affected individuals. Our aim was to analyze environmental factors and SNVs in DDH patients. We included 287 DDH cases and 284 controls. Logistic regression demonstrated an association for sex (OR 9.85, 95% CI 5.55-17.46, p = 0.0001), family history (OR 2.4, 95% CI 1.2-4.5, p = 0.006), fetal presentation (OR 3.19, 95% CI 1.55-6.54, p = 0.002), and oligohydramnios (OR 2.74, 95%CI 1.12-6.70, p = 0.026). A model predicting the risk of DDH including these variables showed sensitivity, specificity, PPV, and NPV of 0.91, 0.53, 0.74, and 0.80 respectively. The SNV rs1800470 in TGFB1 showed an association when adjusted for covariables, OR 0.49 (95% CI 0.27-0.90), p = 0.02. When rs1800470 was included in the equation, sensitivity, specificity, PPV and NPV were 0.90, 0.61, 0.84, and 0.73, respectively. Incorporating no-operator dependent variables and SNVs in detection methods could be useful for establishing uniform clinical guidelines and optimizing health resources.
摘要：
髋关节发育不良（DDH）的诊断主要依靠体格检查和超声检查，并且这两种方法都依赖于运算符。晚期检测可导致年轻人的并发症。目前的证据支持环境和遗传因素的参与，例如单核苷酸变体(SNV)。将遗传因素纳入诊断方法对于实施受影响个体的早期检测和管理将是有用的。我们的目的是分析DDH患者的环境因素和SNV。我们包括287例DDH病例和284例对照。Logistic回归显示性别相关（OR9.85，95％CI5.55-17.46，p=0.0001），家族史（OR2.4，95%CI1.2-4.5，p=0.006），胎儿表现（OR3.19，95%CI1.55-6.54，p=0.002），羊水过少（OR2.74，95CI1.12-6.70，p=0.026）。包括这些变量在内的预测DDH风险的模型显示出敏感性，特异性，PPV,和净现值分别为0.91、0.53、0.74和0.80。TGFB1中的SNVrs1800470显示出关联，OR0.49（95%CI0.27-0.90），p=0.02。当rs1800470包含在等式中时，灵敏度,特异性，PPV和NPV分别为0.90、0.61、0.84和0.73。在检测方法中纳入无操作员因变量和SNV可能有助于建立统一的临床指南和优化健康资源。
