子宫内膜癌雄激素受体CAG重复多态性功能分析及其预后价值评估

Evaluation of prognostic significance and functional analysis of androgen receptor CAG repeat polymorphism in endometrial cancer

Introduction: Endometrial cancer (EC) is one of the most common gynecologic cancers in the world, and is a steroid hormone-related disease. Both epidemiologic and clinical studies have suggested that androgen and its intracellular receptor, androgen receptor (AR), are involved in EC. AR gene contains a CAG repeat (encoding for polyglutamine), highly polymorphic in length, that influences its transactivation function. A lineal increase in CAG repeat length is associated with a progressive decrease in AR activity.
Methods: We have genotyped CAG polymorphisms of the AR gene in genomic DNA from a series of 72 consecutive patients with EC, and analyzed the results with regard to the characteristics and clinical outcome of patients. We categorized the CAG repeat lengths into 4 groups according to the quartile in our series, < 20, 20-21, 22-23, and >23.
Results: Our preliminary data found that shorter AR CAG repeat length is associated with poor disease-free survival and overall survival in EC patients. Cox regression also showed that patients with a shorter AR CAG repeat length had a shorter time to progression and worse overall survival when analyzed in the quartile or in the per unit increase of repeat number (hazard ratios (HR) 0.85, 95% confidence interval (CI) 0.76-0.96, P-trend = 0.006 for DFS; HR 0.82, 95% CI 0.73-0.93, P-trend < 0.001 for OS ;).
Conclusion: This study will not only discover prognostic biomarkers to improve the prediction of EC prognosis, but also help us understand the etiology of EC progression.

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