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胰岛素受体基因多态性与多囊卵巢综合征发病的关系 被引量:30

Correlation between single nucleotide polymorphism of insulin receptor gene with polycystic ovary syndrome
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摘要 目的 探讨胰岛素受体基因酪氨酸激酶区 17外显子多态性与多囊卵巢综合征 (PCOS)发病的关系。方法 用聚合酶链反应 限制性片段多态性技术 ,检测 12 0例PCOS患者 (PCOS组 )和 4 0例正常妇女 (对照组 )的胰岛素受体基因 17外显子 10 5 8位点多态性 ,并测定基础状态下卵泡刺激素(FSH)、黄体生成素 (LH)、雌二醇、睾酮、泌乳素、血脂以及 75g葡萄糖负荷后患者的糖耐量、胰岛素水平。结果  (1)PCOS组体重指数 (BMI)为 2 5± 4、腰臀比 (WHR)为 0 82± 0 0 6、LH为 (9 2± 6 1)U/L、睾酮为 (1 9± 0 9)nmol/L、雌二醇为 (2 0 5± 119)pmol/L ;对照组BMI为 2 3± 3(P <0 0 1)、WHR为 0 79± 0 0 7(P <0 0 5 )、LH为 [(4 4± 1 6 )U/L ,P <0 0 1]、睾酮为 [(1 0± 0 6 )nmol/L ,P <0 0 1]、雌二醇为[(14 3± 75 )pmol/L ,P <0 0 1];(2 )根据PCOS患者BMI进行分组 ,肥胖者 (5 1例 )空腹血糖、75g葡萄糖负荷后 30、6 0、12 0min的血糖及胰岛素水平均明显高于非肥胖组 (6 9例 )患者 ,除 75g糖负荷后 30min外 ,两者血糖间比较 ,差异有显著性 (P <0 0 5或P <0 0 1) ;(3)PCOS患者胰岛素受体基因 17外显子多态性出现频率为 4 0 8% ,明显高于对照组的 12 5 % (P <0 0 1) ;PCOS非肥胖者胰岛素受体基? Objective To investigate the correlation of C/T single nucleotide polymorphism at exon 17 in tyrosine kinase domain of insulin receptor gene with polycystic ovary syndrome (PCOS). Methods(One hundred) and twenty patients with PCOS (PCOS group) and 40 normal females (control group) were included and the 1058 site single nucleotide polymorphism at exon 17 of insulin receptor gene (INSR) was detected with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The baseline parameters including levels of serum follicular stimulating hormone (FSH), luteinizing hormone (LH), prolactin (PRL), estradiol (E_2), testosterone (T) and lipid, as well as the body mass index (BMI) and waist/hip ratio (WHR) were measured. Glucose tolerance and insulin releasing before and after loading with 75 g of glucose were also assayed. Results (1) BMI(25±4 vs. 23±3, P<0.01), WHR(0.82±0.06 vs. 0.79±0.07, P<0.05), LH[ (9.2±6.1)U/L vs. (4.4±1.6)U/L,P<0.01], T[(1.9±0.9)nmol/L vs. (1.0±0.6)nmol/L, P<0.01] and E_2[(205±119)pmol/L vs. (143±75)pmol/L,P<0.01]of PCOS group were higher than those of control group. (2) The blood sugar and insulin levels of fasting, 30 min, 60 min, 120 min after glucose loading in obese PCOS (BMI≥25 kg/m^2) were significantly higher than those in the non-obese PCOS (BMI<25 kg/m^2). (3) C/T single nucleotide polymorphism frequency at exon 17 of INSR in patients with PCOS was significantly higher than that in normal female (41% vs. 12.5%, P<0.01). There was a significant difference between the frequency in non-obese PCOS (52.2%) and obese PCOS (25.5%,P<0.01). (4) BMI in patients with T allele 23±3 of INSR single nucleotide polymorphism was lower than that with C allele (26±4,P<0.05). Conclusions((1) The) body weight and gene single nucleotide polymorphism of INSR may play an important role in the occurrence of insulin resistance in patients with PCOS. (2) The 1058 site nucleotide polymorphism of insulin receptor gene is one of the susceptibility genes in patients with PCO
出处 《中华妇产科杂志》 CAS CSCD 北大核心 2004年第9期582-585,共4页 Chinese Journal of Obstetrics and Gynecology
关键词 胰岛素受体基因 PCOS 患者 BMI 多态性 发病 糖负荷 外显子 位点 等位基因 Polycystic ovary syndrome Insulin resistance Receptor,insulin Polymorphism cyenetics
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参考文献11

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