胰岛素受体基因外显子8、9、17多态性与多囊卵巢综合征的关系探讨

发布时间：2018-07-23 13:43

【摘要】：目的探讨胰岛素受体基因(INSR)外显子8(rs2059806)、9(rs2059807)、17(rs1799817)多态性与多囊卵巢综合征(PCOS)及其分型的关系。方法提取PCOS患者组(121例)和对照组(133例)的血清,进行基础性激素、抗苗勒氏管激素、肝功能和甲状腺功能的检测,对PCOS患者组进行口服葡萄糖耐量实验(OGTT)、胰岛素释放实验(INS)及血脂水平检测。采集两组的全血样本,应用直接测序法,检测PCOS患者组(121例)和对照组(133例)INSR基因外显子8(rs2059806)、9(rs2059807)、17(rs1799817)多态性,并计算两组中基因型和等位基因所占百分比。结果1 PCOS组与对照组比较,BMI、WHR、FSH、LH、T、AMH、ALT、AST、GGT、TSH、T4差异有统计学意义(P0.05)。2 PCOS组与对照组INSR基因外显子8(rs2059806)GG、GA、AA基因型频率分别为(52.07%、69.17%)、(35.53%、21.05%)、(12.40%、9.78%),差异有统计学意义(P=0.0160.05)。PCOS组与对照组等位基因G、A的频率分别为(69.83%、79.70%)、(30.17%、20.30%),差异有统计学意义(P=0.0140.05)。INSR基因外显子9(rs2059807)、17(rs1799817)的基因型及等位基因频率在两组间差异无统计学意义(P=0.3790.05、P=0.8490.05、P=0.3860.05、P=0.7200.05)。3 PCOS组中,经典型与非经典型患者相比,INSR基因外显子8(rs2059806)GG、GA、AA基因型及等位基因G、A频率无统计学意义(P=0.5020.05、P=0.3030.05)。PCOS组中合并代谢综合征与无合并代谢综合征相比,INSR基因外显子8(rs2059806)GG、GA、AA基因型及等位基因G、A频率有统计学意义(P=0.0150.05、P=0.0030.05)。结论1 INSR基因外显子8(rs2059806)多态性与PCOS有关;尚未发现INSR基因外显子9(rs2059807)、17(rs1799817)多态性与PCOS有关。2 INSR基因外显子8(rs2059806)多态性与合并代谢综合征的PCOS有关;等位基因A与PCOS患者合并代谢综合征的易感性有关。
[Abstract]:Objective to investigate the relationship between the polymorphism of insulin receptor gene (INSR) exon 8 (rs2059806) 9 (rs2059807) -17 (rs1799817) and (PCOS) and its typing in polycystic ovary syndrome (PCOS). Methods Serum samples were extracted from 121 patients with PCOS and 133 patients from control group. The levels of basic sex hormone, anti-Mullerian tube hormone, liver function and thyroid function were measured. The oral glucose tolerance test (OGTT), insulin release test (INS) and serum lipid level were performed in PCOS patients. The polymorphisms of INSR gene exon 8 (rs2059806) 9 (rs2059807) simi17 (rs1799817) were detected in 121 patients with PCOS and 133 controls by direct sequencing, and the percentage of genotypes and alleles in the two groups were calculated. 缁撴灉1 PCOS缁勪笌瀵圭収缁勬瘮杈，

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