摘要
目的 探讨醛固酮合成酶 (CYP11B2 )基因多态性与多囊卵巢综合征 (PCOS)发病的关系。方法 采用聚合酶链反应、限制性内切酶消化及电泳技术 ,对 92例PCOS患者和 60例正常妇女的CYP11B2基因 3 44T位点基因多态性进行检测 ,并测定基础状态下促卵泡激素、促黄体生成素、雌二醇、睾酮、孕酮、泌乳素、血肾素活性、血管紧张素Ⅱ及醛固酮水平 ,比较不同基因型PCOS患者及正常妇女的肾素、血管紧张素、醛固酮及雄激素水平差异。结果 ( 1)正常妇女、PCOS患者中 ,CYP11B2基因 3 44T位点C基因频率分别为 2 2 %和 3 6%。 ( 2 )PCOS患者T→C(TC、CC)出现率为 5 7% ,明显高于正常妇女的 3 7% (P <0 0 5 )。 ( 3 )PCOS患者CYP11B2基因型及基因频率的分布与正常妇女比较 ,差异有显著性 (P <0 0 5 ) ;CYP11B2基因 3 44TC、 3 44CC基因型的PCOS患者及正常妇女的肾素、血管紧张素、醛固酮及雄激素水平 ,均明显高于CYP11B2基因 3 44TT基因型者 (P <0 0 1)。结论 ( 1)CYP11B2基因 3 44T位点变异 (T→C)的出现 ,可能增大了患PCOS的风险 ,并与PCOS发病有关。 ( 2 )CYP11B2基因 3 44CC、 3 44TC基因型可能是PCOS的易患基因型 。
Objective To investigate the relationship between?-344T polymorphism in aldosterone synthetase (CYP11B2) gene promoter region and the pathogenesis of polycystic ovary syndrome(PCOS). Methods Ninety two patients with PCOS and controls were genotyped according to the fragment length (273 bp and or 202 bp) of CYP11B2 gene promoter by the technique of polymerase chain reaction-restriction fragment length polymorphism. The levels of luteinizing hormone, follicular stimulating hormone, estrodiol, progesterone, prolactin, testosterone,plasma renin activity (PRA),plasma angiotensin Ⅱ(PANGⅡ) and aldosterone in the basal state were also determined. Different genotypes between PCOS were compared about their levels of PRA, PANGⅡ,aldosterone and testosterone. Results (1) The C allele frequencies of CYP11B2 gene in control and PCOS was 22% and 36%, respectively. (2) The frequency of variants (TC,CC) of CYP11B2 gene?-344T polymorphism site in PCOS(57%) was significantly higher than that of control subjects(37%).(3)The level of PRA,PANGⅡ,aldosterone, testosterone were all significantly higher in the genotype of?-344CC than in that of?-344TT in PCOS and normal women(P<0.01). Conclusions (1) The variants (T→ C) of?-344T polymorphism site of CYP11B2 gene predisposes increased risk of PCOS. (2) The genotype of?-344CC,-344TC may be susceptible genotype of PCOS and has related to the enhanced functional activity of ovarian renin angiotensin system in PCOS.
出处
《中华妇产科杂志》
CAS
CSCD
北大核心
2003年第2期94-97,共4页
Chinese Journal of Obstetrics and Gynecology
