Esinler Ibrahim, Aktas Dilek, Otegen Umit, Alikasifoglu Mehmet, Yarali Hakan, Tuncbilek Ergul
Department of Obstetrics and Gynecology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Reprod Biomed Online. 2008 Mar;16(3):356-60. doi: 10.1016/s1472-6483(10)60596-2.
The aim of this study was to assess the rates of variant alleles of cytochrome P4501A1 (CYP1A1) in patients with polycystic ovary syndrome (PCOS). It was designed as a case-control study in Hacettepe University, Faculty of Medicine, Department of Obstetrics and Gynecology and Genetics. Forty-eight patients with PCOS served as the study group. Ninety-six regularly cycling women with no clinical and biochemical evidence of hyperandrogenism and polycystic ovary appearance served as the controls. The CYP1A1 variant alleles of all patients were determined via polymerase chain reaction. The rate of the CYP1A1 isoleucine (Ile)/valine (Val) allele was significantly higher in patients with PCOS than in the controls (OR: 7.8, 95% CI: 3.45-17.52, P < 0.001). However, there was no statistically significant difference in the distribution of Val/Val genotype (OR: 4.0, 95% CI: 0.60-26.73). The rate of any Val genotype (Ile/Val or Val/Val) was significantly higher in patients with PCOS compared with the control group (OR: 7.4, 95% CI: 3.33-16.46, P < 0.001). In conclusion, the patients with PCOS had a 7.8-fold higher frequency of CYP1A1 Ile/Val genotype and a 7.4-fold higher frequency of CYP1A1 of any Val genotype (Ile/Val or Val/Val).
本研究的目的是评估多囊卵巢综合征（PCOS）患者中细胞色素P4501A1（CYP1A1）变异等位基因的发生率。该研究被设计为一项病例对照研究，在哈杰泰佩大学医学院妇产科和遗传学系进行。48例PCOS患者作为研究组。96例月经周期规律、无高雄激素血症临床及生化证据且无多囊卵巢表现的女性作为对照组。通过聚合酶链反应测定所有患者的CYP1A1变异等位基因。PCOS患者中CYP1A1异亮氨酸（Ile）/缬氨酸（Val）等位基因的发生率显著高于对照组（比值比：7.8，95%置信区间：3.45 - 17.52，P < 0.001）。然而，Val/Val基因型的分布无统计学显著差异（比值比：4.0，95%置信区间：0.60 - 26.73）。与对照组相比，PCOS患者中任何Val基因型（Ile/Val或Val/Val）的发生率显著更高（比值比：7.4，95%置信区间：3.33 - 16.46，P < 0.001）。总之，PCOS患者中CYP1A1 Ile/Val基因型的频率高7.8倍，任何Val基因型（Ile/Val或Val/Val）的CYP1A1频率高7.4倍。
