Department of General Gynecology and Gynecological Urology, University Clinical Center Maribor, Maribor, Slovenia.
Fertil Steril. 2010 Nov;94(6):2291-5. doi: 10.1016/j.fertnstert.2009.12.072. Epub 2010 Feb 19.
To investigate whether polymorphism in CYP17A1 gene is associated with uterine leiomyomas (ULM) and to evaluate differences in epidemiologic and genetic factors among solitary and multiple leiomyomas.
Prospective case control study.
Tertiary gynecology department.
PATIENT(S): One hundred eighty-one women with clinically and surgically diagnosed ULM, 41 healthy control subjects, and 92 population control subjects.
INTERVENTION(S): Completing the questionnaires, peripheral venous puncture.
MAIN OUTCOME MEASURE(S): Polymerase chain reaction and restriction-fragment-length polymorphism analyses were performed to genotype women regarding the CYP17A1 -34 A/G (rs743572) gene polymorphisms. Epidemiologic data was collected by questionnaire and compared between women with ULM and healthy control subjects.
RESULT(S): Women with multiple ULM had higher prevalence of positive family history, lower age at menarche, lower parity, higher percentage of smoking, younger age at first sexual intercourse, lower prevalence of CYP17A1 AA genotype and lower CYP17A1 A allele frequency than healthy control subjects. These trends were not apparent among women with solitary ULM.
CONCLUSION(S): Carriage of CYP17A1 AA is protective for developing ULM in our population. Women with solitary ULM mostly resembled healthy control subjects, whereas women with multiple ULM differed in CYP17A1 AA genotype and external stimuli.
研究细胞色素 P45017A1 基因多态性与子宫肌瘤（ULM）的关系，并评估单发和多发子宫肌瘤之间流行病学和遗传因素的差异。
前瞻性病例对照研究。
三级妇科。
181 名经临床和手术诊断为 ULM 的女性、41 名健康对照者和 92 名人群对照者。
完成问卷调查、外周静脉穿刺。
采用聚合酶链反应和限制性片段长度多态性分析方法对 CYP17A1-34A/G(rs743572)基因多态性进行基因分型。通过问卷调查收集流行病学数据，并将 ULM 患者与健康对照者进行比较。
多发性 ULM 患者阳性家族史发生率较高，初潮年龄较小，产次较低，吸烟比例较高，首次性行为年龄较小，CYP17A1AA 基因型和 CYP17A1A 等位基因频率较低，而健康对照组则相反。这些趋势在单发 ULM 患者中并不明显。
在我们的人群中，CYP17A1AA 携带对 ULM 的发生具有保护作用。单发 ULM 患者大多与健康对照组相似，而多发性 ULM 患者在 CYP17A1AA 基因型和外部刺激因素上存在差异。
