Prazáková Silvie, Vanková Markéta, Bradnová Olga, Lukásová Petra, Vcelák Josef, Dvoráková Katerina, Vondra Karel, Vrbíková Jana, Bendlová Bela
Endokrinologický ústav Narodni 8, 116 94 Praha 1.
Cas Lek Cesk. 2010;149(11):520-5.
Polycystic ovary syndrome (PCOS) is a common endocrinopathy which is characterized by ovarian androgen excess. PCOS has a strong genetic component but the pathogenetic mechanisms responsible for hyperandrogenemia are still unknown. The CYP11A1 encodes the cholesterol side-chain cleavage enzyme that catalyzes the first and rate-limiting step of steroidogenesis. A promoter polymorphism (TTTTA)n CYP11A1 has been reported to be related to the risk of PCOS but the results were controversial.
We determined this polymorphism in a cohort of 256 PCOS and 109 healthy control women. Using two models (dominant model for allele with 4 repeats and dominant model for long alleles, i.e. 7 and more repeats) we did not find either the difference in allele and genotype distribution between PCOS and controls or the influence of polymorphism on serum testosterone and androstendione levels. However, the PCOS carriers of long alleles had lower FSH, total- and LDL-cholesterol compared to the carriers of short alleles (p = 0.007; p = 0.02; p = 0.02, ANOVA). In controls, the non-carriers of allele with 4 repeats had significantly higher DHEA-S (p = 0.02, ANOVA) levels than the carriers of allele with 4 repeats.
Despite of some associations found, it seems that the promoter variability of CYP11A1 does not play a key role in the pathogenesis of PCOS.
多囊卵巢综合征（PCOS）是一种常见的内分泌病，其特征为卵巢雄激素过多。PCOS具有很强的遗传成分，但导致高雄激素血症的发病机制仍不清楚。CYP11A1编码胆固醇侧链裂解酶，该酶催化类固醇生成的第一步和限速步骤。据报道，CYP11A1启动子多态性（TTTTA）n与PCOS风险相关，但结果存在争议。
我们在256例PCOS患者和109例健康对照女性队列中确定了这种多态性。使用两种模型（4次重复等位基因的显性模型和长等位基因即7次及以上重复的显性模型），我们未发现PCOS患者与对照组之间等位基因和基因型分布存在差异，也未发现多态性对血清睾酮和雄烯二酮水平有影响。然而，与短等位基因携带者相比，长等位基因的PCOS携带者的促卵泡激素（FSH）、总胆固醇和低密度脂蛋白胆固醇水平较低（方差分析，p = 0.007；p = ；p = 0.02）。在对照组中，4次重复等位基因的非携带者的硫酸脱氢表雄酮（DHEA-S）水平（方差分析，p = 0.02）显著高于4次重复等位基因的携带者。
尽管发现了一些关联，但CYP11A1启动子变异性似乎在PCOS发病机制中不发挥关键作用。
