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钙蛋白酶-10 基因SNP-19 与多囊卵巢综合征相关性研究
邓妙, 刘元伟, 张红艳, 岑加萍, 张治芬
杭州市第一人民医院妇产科
摘要:
目的 探讨钙蛋白酶-10 基因(CAPN-10)单核苷酸多态性-19(SNP-19)与多囊卵巢综合征(PCOS)的相关性。 方法 采用聚合酶链反应- 限制性片段长度多态性(PCR-RFLP)技术,对107 例PCOS患者(PCOS 组)及111 例健康体检者(对照组)的CAPN-10 SNP-19 进行分析,并测定其性激素和生化指标。PCOS组再根据BMI与胰岛素抵抗(IR)稳态模型指数(HOMA-IR)分为肥胖组与非肥胖组、IR 组与非IR 组,分析CAPN-10 SNP-19 与其关系。结果 与对照组相比,PCOS 组BMI、空腹血糖(FPG)、TG、TC、LDL、黄体生成素(LH)、黄体生成素/ 卵泡刺激素(LH/FSH)、睾酮(T)均升高(均P<0.01)。PCOS 组CAPN-10 SNP-19 1等位基因及1/2基因型频率均高于对照组(均P<0.05);且CAPN-10 SNP-19 1/2基因型PCOS 发病风险较1/1、2/2 基因型增加约2倍(OR=1.9,95%CI=1.1~3.3,P<0.05)。CAPN-10 SNP-19 1、2等位基因频率PCOS 肥胖组与非肥胖组、IR 组与非IR组比较均无统 计学差异(均P>0.05);PCOS 肥胖组和IR组CAPN-10 SNP-19 1/2基因型频率分别高于非肥胖组和非IR 组,但差异均无统计学意义(均P>0.05)。结论 CAPN-10 SNP-19 与PCOS 遗传易感性有关,可能与PCOS 肥胖及IR 无关。
关键词:  多囊卵巢综合征  半胱氨酸内肽酶类,钙蛋白酶-10  多态性,单核苷酸  胰岛素抵抗
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基金项目:浙江省科技计划项目
Association of CAPN-10 SNP-19 with polycystic ovary syndrome
DENG Miao, LIU Yuanwei, ZHANG Hongyan, CEN Jiaping, ZHANG Zhifen
Hangzhou First People's Hospital
Abstract:
Objective To investigate the relationship between single nucleotide polymorphisms-19 (SNP-19) in calpain-10 (CAPN-10) gene and polycystic ovary syndrome (PCOS). Methods One hundred and seven PCOS patients(PCOS group) and 111 healthy female subjects(control group) were recruited in the study. The distribution of CAPN-10 SNP-19 was analyzed by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP). Serum hormones and biochemical indicators were also measured. Oral glucose tolerance test (OGTT) was performed in PCOS group. Results The BMI, FPG, TG,TC, LDL, LH, LH/FSH and T levels were significantly increased in PCOS group compared to control group(P<0.01).The frequency of allele 1 and genotype 1/2 of CAPN-10 SNP-19 were higher in PCOS group than those in control group. Genotype 1/2 was closely associated with PCOS compared to 1/1 and 2/2(OR=1.9, 95%CI=1.1-3.3, P<0.05). There was no significant difference in frequency of genotype 1/2 between obese group and non-obese group, between insulin resistance (IR) group and non-IR group of PCOS patients (P>0.05). Conclusion The SNP-19 in CAPN-10 may contribute to the genetic susceptibility to PCOS, but it may be not correlate with obesity or IR of PCOS patients.
Key words:  Polycystic ovary syndrome  Cysteine endopeptidases,CAPN-10  Polymorphism, single nucleotide  Insulin resistance