A novel single nucleotide polymorphism of INSR gene for polycystic ovary syndrome
A novel single nucleotide polymorphism of INSR gene for polycystic ovary syndrome
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DOI：
10.1016/j.fertnstert.2007.05.026
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发表时间：
2008-05-01
影响因子：
6.7
通讯作者：
Baek, Kwang-Hyun
中科院分区：
文献类型：
--
作者：
Lee, Eung-Ji;Oh, Bermseok;Baek, Kwang-Hyun
目的，，调查胰岛素受体 (INSR) 基因中与韩国人群多囊卵巢综合征 (PCOS) 发病机制显着相关的几个单核苷酸多态性 (SNP)。设计：病例对照研究。地点：大学医院。患者：134 名 PCOS 患者和 100 名健康女性作为对照。干预(S)：来自 100 名健康女性和 100 名健康女性 DNA 样本中 INSR 的所有外显子对 134 名 PCOS 女性进行测序和比较。 主要结果指标：INSR 基因中几个在韩国人群中特异表达的 SNP 的基因型频率。 结果（S）：在大人群中分析的 9 个 SNP 中，8 个 SNP 的基因型频率相似，且与 PCOS 没有统计学上的显着关联。然而，对照组中一个新的 SNP（+176477 C>T）的次要等位基因的频率高于患者组。结论（S）：在分析的 SNP 中，INSR 基因中的一个新的 SNP +176477 C>T 与韩国人群中 PCOS 的发病机制相关。
Objective,, To investigate several single nucleotide polymorphisms (SNPs) in the insulin receptor (INSR) gene that have significant associations with pathogenesis of polycystic ovary syndrome (PCOS) in a Korean population.Design: Case-control study.Setting: University-based hospital.Patient(s): 134 patients with PCOS and 100 healthy women as controls.Intervention(S): All exons of INSR in DNA samples from 100 healthy women and 134 women with PCOS were sequenced and compared.Main Outcome Measure(s): Frequencies of genotypes for several SNPs in INSR gene that were found as specifically expressed SNPs in Korean population.Result(S): Among nine SNPs analyzed in a large population, the genotypic frequencies of eight SNPs were similar, and they had no statistically significant association with PCOS. However, the frequency of a minor allele for one novel SNP, +176477 C>T, was higher in the control group than the patient group.Conclusion(S): Among the analyzed SNPs, +176477 C>T, a novel SNP in the INSR gene, was associated with the pathogenesis of PCOS in a Korean population.