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

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.

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

OBJECTIVE: To investigate the relationship between single nucleotide polymorphism-56 (SNP-56) in calpain-10 (CAPN-10) gene and polycystic ovary syndrome (PCOS) in Chinese. METHODS: The genotypes of SNP-56 of CAPN-10 were determined through polymerase chain reaction Tm-shift genotyping method in 638 local women in Shandong Province. Among them, 334 were patients with PCOS (PCOS group) and 304 were normal women (control group). The baseline parameters including levels of serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), prolactin (PRL), estradiol (E2), 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) The frequencies of two allelotypes or three genotypes did not differ between PCOS women and normal women (P > 0.05). (2) In PCOS group, patients with AA genotype had a significantly higher plasma glucose of 180 minutes OGTT (5.7 +/- 2. 2)mmol/L [P < 0.01 compared to GA genotype (4.9 +/- 1.2) mmol/L, P < 0.01 compared to GG genotype (4.9 +/- 1.4) mmol/L] and serum total cholesterol (TC) level (4.9 +/- 1.0) mmol/L [P < 0.05 compared to GA genotype (4.5 +/- 0.9) mmol/L]. (3) Compared to PCOS patients with GA + GG genotype (P < 0.05, P < 0.01) or GG genotype (P < 0.05, P < 0.01), there was significantly higher attack rate of diabetes and tumor in the family history of patients with AA genotype. CONCLUSIONS: These findings suggest that CAPN-10 gene SNP-56 which may not contribute to the genetic susceptibility of PCOS plays a role in glucose and lipid metabolism in Chinese PCOS patients. It may also be correlated with attack rate of diabetes and tumor in the family history of PCOS patients.