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钙蛋白酶10基因多态性与多囊卵巢综合征患者糖耐量及脂代谢异常的相关性

Relationship between single nucleotide polymorphism-56 of calpain-10 gene and glucose and lipid metabolism in polycystic ovary syndrome patients

摘要:

目的 探讨钙蛋白酶10(CAPN-10)基因56位点单核苷酸多态性(SNP-56)与多囊卵巢综合征(PCOS)患者糖耐量及脂代谢异常的相关性.方法 选取山东地区PCOS患者334例(PCOS组),健康妇女304例(对照组),采用熔解温度不同的基因分型法检测CAPN-10基因SNP-56,并采用免疫化学发光法测定泌乳素、卵泡刺激素(FSH)、黄体生成素(LH)、雌二醇、睾酮水平.PCOS组同时测定血糖、血脂、血清胰岛素水平.结果 (1)基因型及等位基因频率分布两组比较,差异均无统计学意义(P>0.05).(2)在PCOS组,口服葡萄糖耐量试验(OGTF)180 min血糖水平AA基因型者为(5.7±2.2)mmol/L,GA基因型者为(4.9±1.2)mmol/L,GG基因型者为(4.9±1.4)mmol/L,分别比较,差异均有统计学意义(P均<0.01);总胆固醇(TC)水平AA基因型者为(4.9±1.0)mmol/L,GA基因型者为(4.5±0.9)mmol/L,两者比较,差异也有统计学意义(P<0.05).(3)在PCOS组,有糖尿病家族史者共44例,AA基因型频率为22.7%(10/44),GA+GG基因型频率为77.3%(34/44),GG基因型频率为34.1%(15/44);无糖尿病家族史者共290例,AA基因型频率为11.0%(32/290),GA+GG基因型频率为89.0%(258/290),GG基因型频率为47.2%(137/290),有无糖尿病家族史者AA与GA+GG基因型频率比较及AA与GG基因型频率比较,差异均有统计学意义(x2=4.751,x2=5.697;P均<0.05).在PCOS组,有肿瘤家族史者共21例,AA基因型频率为33.3%(7/21),GA+GG基因型频率为66.7%(14/21),GG基因型频率为19.0%(4/21);无肿瘤家族史者共313例,AA基因型频率为11.2%(35/313),GA+GG基因型频率为88.8%(278/313),GG基因型频率为47.3%(148/313).结论 (1)CAPN-10基因SNP-56与PCOS的遗传易感性无明显相关性,但与PCOS患者糖、脂代谢异常有明显相关性.(2)CAPN-10基因SNP-56与PCOS患者糖尿病家族史及肿瘤家族史相关,应重视对高危PCOS个体的随访.

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abstracts:

Objective To study the effect of desogestrel and ethinyl estradiol(DEE)pre-treatment combined with gonadotropin releasing hormone agonist(GnRH-a)stimulation in in vitro fertilization-embryo transplantation(IVF-ET).Methods A retrospective analysis was performed in 101 infertile women who received a short protocol of GnRH-a for IVF-ET treatment from June 2004 to June 2007 in the Reproductive Medicine Center of First Affiliated Hospital of Wenzhou Medical College.Patients had been pre-treated with oral contraceptive pill(OCP)for two months before GnRH-a combined with recombinant follicle stimulation hormone(r-FSH)treatment(study group,n=42)or had not been pretreated with OCP(control group,n=59).A statistical analysis of two groups was carried out for the assessment of ovulation stimulating effect of OCP and its influence on the IVF.Results Serum FSH was significantly decreased after OCP in the study group.Twelve pregnancies were obtained including 1 case of spontaneous abortion at 7 weeks in the study group,and 11 pregnancies were obtained including 2 cases of spontaneous abortion during 7-9 weeks in control group.The clinical pregnancy rates in the study group(23%,12/53)was higher than that in the control group(17%,11/63),but the differences were not significant(P>0.05).The miscarriage rate in the study group(8%,1/12)was lower than that in the control group(18%,2/11),however no significant differences were found between them(P>0.05).The cycle cancellation rate in patients of the study group(5%,3/56)was significantly lower than that in patients of the control group(17%,13/76,P<0.05).The differences between patients of the two groups with respect to age,basal level of FSH and luteinizing hormone (LH),antral follicle counts,the mean number of oocyte retrieval,the days of stimulation,total dose of rFSH used,fertilization rate and embryo cleavage rate,however were insignificant.Conclusion OCP pretreatment combined with short protocol of GnRH-a stimulation in IVF could significantly decrease the cycle cancellation rate,with a declining miscarriage rate and increasing pregnancy rate.

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