目的探讨FoxO1基因在新疆维吾尔族先天性马蹄内翻足(ICTEV)中的表达及FoxO1与先天性马蹄内翻足畸形程度的相关性。方法运用Western Blot方法检测新疆地区51例维吾尔族先天性马蹄内翻足患儿和25例维吾尔族健康儿童足部肌肉组织中FoxO1蛋白表达水平;应用实时荧光定量PCR测定不同畸形程度维吾尔族先天性马蹄内翻足患儿FoxO1mRNA相对表达量。结果 Western Blot检测结果显示ICTEV患儿FoxO1蛋白表达水平(0.52±0.23)低于正常儿童(1.61±0.15),两组比较差异有统计学意义(P=0.017)。实时荧光定量PCR检测显示,DimeglioⅡ、Ⅲ、Ⅳ型ICTEV的FoxO1mRNA相对表达量分别为1.02±0.24、0.67±0.15、0.24±0.19;维吾尔族ICTEV畸形程度与FoxO1mRNA相对表达量呈负相关性(P=0.039)。结论 FoxO1基因转录水平随ICTEV畸形程度的加重而逐渐降低,提示FoxO1基因可能参与了维吾尔族ICTEV的整个发病过程。 Objective To investigate the expression of FoxO1 in congenital clubfoot (ICTEV) of Uygur in Xinjiang and the correlation between FoxO1 and congenital clubfoot deformity. Methods Western Blot method was used to detect FoxO1 expression in 51 cases of Uygur congenital clubfoot and 25 cases of healthy Uygur children’s foot muscle in Xinjiang. Real-time quantitative PCR was used to detect the prevalence of Uygur congenital Relative expression of FoxO1mRNA in children with clubfoot. Results The results of Western Blot showed that the expression of FoxO1 protein in ICTEV children was lower than that in normal children (0.52 ± 0.23) (1.61 ± 0.15). There was significant difference between the two groups (P = 0.017). Real-time quantitative PCR showed that the relative expression levels of FoxO1 mRNA in ICTEV of DimeglioⅡ, Ⅲ and Ⅳ were 1.02 ± 0.24,0.67 ± 0.15 and 0.24 ± 0.19, respectively. There was a negative correlation between the deformity of ICTEV and the relative expression of FoxO1 in Uighur ICTEV (P = 0.039). Conclusion The transcription level of FoxO1 gene decreases with the severity of ICTEV degeneration, suggesting that FoxO1 may be involved in the pathogenesis of Uygur ICTEV.