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胰岛素基因可变重复序列多态性与PCOS的相关性 被引量：10

Polymorphism of Insulin Gene Variable Number Tandem Repeats Correlation with Polycystic Ovary Syndrome
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摘要 目的:探讨胰岛素基因可变重复序列(INS-VNTR)多态性与多囊卵巢综合征(PCOS)易感性之间的关系及其与PCOS发生胰岛素抵抗(IR)的相关性。方法:用聚合酶链反应-限制性片段多态性技术,检测130例PCOS患者(PCOS组)和130例非PCOS妇女(对照组)的INS-VNTR多态性。结果:2组的Ⅰ/Ⅰ、Ⅰ/Ⅲ和Ⅲ/Ⅲ基因型频率分布差别无统计学意义(P=0.196),经Logistic回归分析,Ⅲ/Ⅲ基因型并没有增加PCOS发病的危险性(OR=6.25,95%CI:0.74～52.79)。PCOS胰岛素抵抗亚组(PCOS-IR组,88例)相应位点的INS-VNTR基因型频率及等位基因频率均高于PCOS非胰岛素抵抗亚组(PCOS-NIR组,42例,P<0.05);PCOS患者中Ⅲ/Ⅲ基因型者的INS、IR状态高于Ⅰ/Ⅰ基因型者。结论:VNTR可能不是PCOS发病的易感基因,但是Ⅲ型INS-VNTR可能使PCOS患者发生IR的危险性增加。 Objective：To investigate the correlation between the insulin gene variable number tandem repeats（INS-VNTR）and polycystic ovary syndrome（PCOS）and metabolic features related to insulin resistance（IR）.Methods：One hundred and thirty patients with PCOS（PCOS group）and 130 normal women（control group） were included.Genotyping of INS-VNTR was performed using polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）.Results：The distribution of genotype of INS-VNTR was similar in PCOS group,and compared with the Ⅰ/Ⅰ carriers,an odd ratio（OR） for Ⅲ/Ⅲ carriers was 6.25 [95% confidence interval（CI）=0.749-52.79].The distribution of genotype and the Ⅲ allele frequency of INS-VNTR in PCOS insulin resistance（PCOS-IR）group were significantly higher than that in PCOS non-insulin resistance group（PCOS-NIR）.Moreover,PCOS women with Ⅲ/Ⅲ had statistically significantly higher fasting insulin lever and HOMA-IR than that of PCOS women with Ⅰ/Ⅰ.Conclusions：INS-VNTR may not be a susceptibility gene,but INS VNTR polymorphism may play an important role in the occurrence of insulin resistance in patients with PCOS.
作者 张琴芬 韩素萍 崔毓桂 李瑛 马翔 高莉 冒韵东 刘嘉茵
机构地区 东南大学附属中大医院妇产科 南京医科大学第一附属医院生殖医学科 江苏省计划生育科学技术研究所
出处 《国际生殖健康／计划生育杂志》 CAS 2010年第4期252-255,共4页 Journal of International Reproductive Health/Family Planning
基金 国家自然科学基金(30800394) 江苏省科技厅项目(BM2008151) 江苏省医学重点学科(XK200702)
关键词 多囊卵巢综合征 胰岛素 多态现象 遗传 胰岛素抗药性 聚合酶链反应 多态性 限制性片段长度 串联重复序列 Polycystic ovary syndrome Insulin Polymorphism genetic Insulin resistance Polymerase chain reaction Polymorphism restriction fragment length Tandem repeat sequences
分类号 R711.75 [医药卫生—妇产科学]
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参考文献10

  • 1Bell GI,Selby M J,Butter WJ.The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences[J].Nature,1982,295(5844):31-35.
  • 2Wang K,You L,Shi Y,et al.Association of genetic variants of insulin degrading enzyme with metabolic features in women with polycystic ovary syndrome[J].Fertil Steril,2008,90(2):378-384.
  • 3Ma F,Qiao L,Yue H,et al.Homeostasis model assessmentinsulin resistance (HOMA-IR),a key role for assessing the ovulation function in polycystic ovary syndrome (PCOS) patients with insulin resistance[J].Endocr J,2008,55(5):943-945.
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  • 5Meigs JB,Dupuis J,Herbert AG,et al.The insulin gene variable number tandem repeat and risk of type 2 diabetes in a population-based sample of families and unrelated men and women[J].J Clin Endocrinol Metab,2005,90(2):1137-1143.
  • 6Litou H,Anastasiou E,Thalassinou L,et al.Increased prevalence of VNTR Ⅲ of the insulin gene in women with gestational diabetes mellitus(GDM)[J].Diabetes Res Clin Pract,2007,76(2):223-228.
  • 7Waterworth DM,Bennett ST,Gharani N,et al.Linkage and association of insulin gene VNTR regulatory polymorphism with polycystie ovary syndrome[J].Lancet,1997,349(9057):986-990.
  • 8Ferk P,Perme MP,Gersak K.Insulin gene polymorphism in women with polycystic ovary syndrome[J].J Int Med Res,2008,36(6):1180-1187.
  • 9Powell BL,Haddad L,Bennett A,et al.Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits[J].J Clin Endocrinol Metab,2005,90 (5):2988-2993.
  • 10徐玉萍,曹云霞,易龙,王勇.胰岛素基因多态性与多囊卵巢综合征的相关性研究[J].生殖与避孕,2008,28(9):525-529. 被引量：6

二级参考文献14

  • 1Dunaif A, Finegood DT. Beta-cell dysfunction independent of obesity and glucose intolerance in the polycystic ovary syndrome. J Clin Endocrinol Metab, 1996, 81(3):942-7.
  • 2Colilla S, Cox NJ, Ehrmann DA. Heretability of insulin secretion and insulin action in women with PCOS and their first degree relatives. J Clin Endocrinol Metab, 2001, 86(5): 2027-31.
  • 3Harper ME, Ullrich A, Saunders GF. Localization of the human insulin gene to the distal end of the short arm of chromosome 11. Proc Natl Acad Sci, 1981, 78(7):4458-60.
  • 4Waterworth DM, Bennett ST, Gharani N, et al. Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome. Lancet, 1997, 349(5): 986-9.
  • 5Calvo RM, Telleria D, Sancho J, et al. Insulin gene variable number of tandem repeats regulatory polymorphism is not associated with hyperandrogenism in Spanish women. Fertil Steril, 2002, 77(4):666-8.
  • 6The Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome. Fertil Steril, 2004, 81(1): 19-25.
  • 7Bennett ST, Lucassen AM, Gough SCL, et al. Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nature Genetics, 1995, 9(3):284-92.
  • 8Rodriguez S, Gaunt TR., O' Dell SD, et al. Haplotypic analyses of the IGF2-INS-TH gene cluster in relation to cardiovascular risk traits. Hum Mol Genet, 2004, 13(7):715-25.
  • 9Urbanek M, Legro RS, Driscoll DA, et al. Thirty-seven candidate genes for polycystic ovary syndrome: strongest evidence for linkage is with follistatin. Proc Natl Acad Sci USA, 1999, 96(7): 8573-8.
  • 10Brenda LP, Lema H, Amanda B, et al. Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits. J Clin Endocrinol Metab, 2005, 90 (5):2988-93.

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引证文献10

二级引证文献62

国际生殖健康／计划生育杂志
2010年 第4期

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