先天性马蹄内翻足与FoxO基因家族的相关性研究

Association between idiopathic congenital talipes equinovarus and FoxO gene family

摘要:

目的  探索先天性马蹄内翻足（ICTEV）与肌肉组织FoxO基因家族（FoxO1、FoxO3和FoxO4）基因表达的相关性。方法  将2012～2014年新疆医科大学附属中医医院80例ICTEV患儿及40例健康儿童纳入研究，运用实时荧光定量聚合酶链反应（Real time-qPCR）和Western blot方法检测ICTEV患儿和健康儿童足部肌肉组织FoxO1、FoxO3和FoxO4的基因转录及表达水平。结果  ①与健康儿童比较，ICTEV患儿肌肉组织中FoxO1基因转录水平存在明显下调，差异有统计学意义（P =0.021）；FoxO3、FoxO4基因转录水平无明显变化，差异无统计学意义（P =0.738）。②ICTEV患儿肌肉组织中FoxO1蛋白表达量比健康儿童更少，差异有统计学意义（P =0.017）；FoxO3、FoxO4蛋白表达水平差异无统计学意义（P =0.672）。③与汉族ICTEV患儿比较，维吾尔族ICTEV患儿肌肉组织中FoxO1基因转录水平存在显著下调；FoxO3、FoxO4基因转录水平差异无统计学意义。结论  ICTEV与FoxO基因家族之间存在相关性，FoxO1表达水平的降低可能与ICTEV的发生有关，并提示新疆地区维吾尔族ICTEV患儿更易受FoxO1表达水平的影响。

Abstract:

Objective To study the association between idiopathic congenital talipe equinovarus (ICTEV) and FoxO gene family (FoxO1, FoxO3 and FoxO4). Methods A total of 80 ICTEV patients and 40 normal controls were collected in the Affiliated Hospital of Xinjiang Medical University between 2012 and 2014. The RT-PCR and Western blot were performed to evaluate the levels of mRNA and protein of FoxO1, FoxO3 and FoxO4 from ICTEV patients and normal controls. Results Compared with the normal controls, the ICTEV patients showed down-regulation of FoxO1 gene in transcription (P = 0.021). However there was no difference in FoxO3 or FoxO4 (P = 0.738). Western blot showed that FoxO1 protein was down-regulated in muscular tissue of the ICTEV patients (P = 0.017), neither FoxO3 nor FoxO4 protein level had significant difference (P = 0.672). Compared with the Han ICTEV patients, the Uygur ICTEV patients showed down-regulation of FoxO1 gene in transcription (P < 0.05), but there was no difference in FoxO3 or FoxO4 (P > 0.05). Conclusions There is a significant correlation between ICTEV and FoxO gene family. The low expression level of FoxO1 could lead to the occurrence of ICTEV. In addition, these results indicated that the Uygur ICTEV patients are prone to be influenced by the expression level of FoxO1.