胰岛素受体基因单核苷酸多态性与多囊卵巢综合征的相关性

[Correlation between single nucleotide polymorphism of insulin receptor gene with polycystic ovary syndrome].

作者信息

Chen Zi-jiang, Shi Yu-hua, Zhao Yue-ran, Li Yuan, Tang Rong, Zhao Li-xin, Chang Zhong-he

机构信息

Reproductive Medical Center of Shandong Provincial Hospital, Shandong University, Jinan 250021, China.

出版信息

Zhonghua Fu Chan Ke Za Zhi. 2004 Sep;39(9):582-5.

PMID:15498182

Abstract

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 PCOS, especially in non-obese PCOS patients.

摘要

目的

探讨胰岛素受体基因酪氨酸激酶结构域第17外显子C/T单核苷酸多态性与多囊卵巢综合征（PCOS）的相关性。

方法

选取120例PCOS患者（PCOS组）和40例正常女性（对照组），采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术检测胰岛素受体基因（INSR）第17外显子1058位点的单核苷酸多态性。测量血清促卵泡生成素（FSH）、促黄体生成素（LH）、催乳素（PRL）、雌二醇（E₂）、睾酮（T）及血脂水平、体重指数（BMI）和腰臀比（WHR）等基线参数。同时检测75g葡萄糖负荷前后的糖耐量和胰岛素释放情况。

结果

（1）PCOS组的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]和E₂[（205±119）pmol/L vs.（143±75）pmol/L，P<0.01]均高于对照组。（2）肥胖PCOS患者（BMI≥25kg/m²）葡萄糖负荷后空腹、30min、60min、120min的血糖和胰岛素水平显著高于非肥胖PCOS患者（BMI<25kg/m²）。（3）PCOS患者INSR第17外显子C/T单核苷酸多态性频率显著高于正常女性（41% vs. 12.5%，P<0.01）。非肥胖PCOS组与肥胖PCOS组频率差异有统计学意义（52.2% vs. 25.5%，P<0.01）。（4）INSR单核苷酸多态性T等位基因患者的BMI（23±3）低于C等位基因患者（26±4，P<0.05）。