Department of Genetics and Biotechnology, Faculty of Biology, University of Athens, Athens, Greece.
Arch Gynecol Obstet. 2011 Feb;283(2):289-93. doi: 10.1007/s00404-009-1348-x. Epub 2010 Jan 13.
The CYP17 gene encodes the enzyme cytochrome P450c17α, which functions at key steps in the synthesis process of human sex steroid hormones. A T/C polymorphism in the 5' promoter region of the CYP17 gene has been described previously. Serum levels of androgens and estrogens have been shown to be elevated in individuals who carry the C substitution (Α2 allele). We hypothesized that variability in genes that control the sex hormone (estrogens, testosterone) biosynthesis might affect the pregnancy outcome. In the present study, we investigated the possible association between the T/C polymorphism of the promoter of CYP17 gene and the risk of recurrent spontaneous abortions in the Greek population.
In the prospective case-control study, 148 patients and 134 healthy controls were studied. Women who had at least three unexplained spontaneous abortions before 20 weeks of gestation were included in the patient group. The PCR-RFLP method was used to genotype the subjects.
The frequencies of A1A1, A1A2, A2A2 genotypes were 0.34, 0.52, 0.14, respectively, in the patient group and 0.32, 0.47, 0.21, respectively, in the control group. The allele frequencies were 0.595 and 0.405 for A1 and A2, in the patient group and 0.555 and 0.445 for A1 and A2, respectively, in the control group. The data between the two groups were analyzed by χ(2) test. Our results showed that there are no significant differences in genotype (P = 0.3883) or in allele frequencies (P = 0.3800) between the patient and the control group.
The T/C promoter polymorphism of the CYP17 gene is not associated with the risk for recurrent spontaneous abortions in our Caucasian population.
CYP17 基因编码细胞色素 P450c17α 酶，该酶在人类性激素合成过程中的关键步骤中发挥作用。先前已经描述了 CYP17 基因 5'启动子区域的 T/C 多态性。携带 C 取代（A2 等位基因）的个体的雄激素和雌激素血清水平升高。我们假设控制性激素（雌激素、睾丸激素）生物合成的基因的变异性可能会影响妊娠结局。在本研究中，我们研究了 CYP17 基因启动子的 T/C 多态性与希腊人群复发性自然流产风险之间的可能关联。
在前瞻性病例对照研究中，研究了 148 例患者和 134 例健康对照者。将至少有三次 20 周前不明原因自然流产的女性纳入患者组。使用 PCR-RFLP 方法对受试者进行基因分型。
患者组的 A1A1、A1A2、A2A2 基因型频率分别为 0.34、0.52、0.14，对照组分别为 0.32、0.47、0.21。A1 和 A2 的等位基因频率分别为 0.595 和 0.405，A1 和 A2 的等位基因频率分别为 0.555 和 0.445，在患者组和对照组中。通过 χ(2)检验分析两组间的数据。我们的结果表明，患者组和对照组之间在基因型（P=0.3883）或等位基因频率（P=0.3800）方面无显著差异。
在我们的白种人群中，CYP17 基因启动子的 T/C 多态性与复发性自然流产的风险无关。
