【摘要】：目的探討胰島素受體基因(INSR)外顯子8(rs2059806)、9(rs2059807)、17(rs1799817)多態(tài)性與多囊卵巢綜合征(PCOS)及其分型的關(guān)系。方法提取PCOS患者組(121例)和對(duì)照組(133例)的血清,進(jìn)行基礎(chǔ)性激素、抗苗勒氏管激素、肝功能和甲狀腺功能的檢測(cè),對(duì)PCOS患者組進(jìn)行口服葡萄糖耐量實(shí)驗(yàn)(OGTT)、胰島素釋放實(shí)驗(yàn)(INS)及血脂水平檢測(cè)。采集兩組的全血樣本,應(yīng)用直接測(cè)序法,檢測(cè)PCOS患者組(121例)和對(duì)照組(133例)INSR基因外顯子8(rs2059806)、9(rs2059807)、17(rs1799817)多態(tài)性,并計(jì)算兩組中基因型和等位基因所占百分比。結(jié)果1 PCOS組與對(duì)照組比較,BMI、WHR、FSH、LH、T、AMH、ALT、AST、GGT、TSH、T4差異有統(tǒng)計(jì)學(xué)意義(P0.05)。2 PCOS組與對(duì)照組INSR基因外顯子8(rs2059806)GG、GA、AA基因型頻率分別為(52.07%、69.17%)、(35.53%、21.05%)、(12.40%、9.78%),差異有統(tǒng)計(jì)學(xué)意義(P=0.0160.05)。PCOS組與對(duì)照組等位基因G、A的頻率分別為(69.83%、79.70%)、(30.17%、20.30%),差異有統(tǒng)計(jì)學(xué)意義(P=0.0140.05)。INSR基因外顯子9(rs2059807)、17(rs1799817)的基因型及等位基因頻率在兩組間差異無(wú)統(tǒng)計(jì)學(xué)意義(P=0.3790.05、P=0.8490.05、P=0.3860.05、P=0.7200.05)。3 PCOS組中,經(jīng)典型與非經(jīng)典型患者相比,INSR基因外顯子8(rs2059806)GG、GA、AA基因型及等位基因G、A頻率無(wú)統(tǒng)計(jì)學(xué)意義(P=0.5020.05、P=0.3030.05)。PCOS組中合并代謝綜合征與無(wú)合并代謝綜合征相比,INSR基因外顯子8(rs2059806)GG、GA、AA基因型及等位基因G、A頻率有統(tǒng)計(jì)學(xué)意義(P=0.0150.05、P=0.0030.05)。結(jié)論1 INSR基因外顯子8(rs2059806)多態(tài)性與PCOS有關(guān);尚未發(fā)現(xiàn)INSR基因外顯子9(rs2059807)、17(rs1799817)多態(tài)性與PCOS有關(guān)。2 INSR基因外顯子8(rs2059806)多態(tài)性與合并代謝綜合征的PCOS有關(guān);等位基因A與PCOS患者合并代謝綜合征的易感性有關(guān)。
[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. 緇撴灉1 PCOS緇勪笌瀵圭収緇勬瘮杈，

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