Department of Gynaecology and ObstetricsNanjing Jiangning Hospital Affiliated to Nanjing Medical University, Nanjing 211100, ChinaState Key Laboratory of Reproductive MedicineSchool of Public Health, Institute of Toxicology, Nanjing Medical University, 101 Longmian Road, Nanjing 211166, ChinaKey Laboratory of Modern ToxicologyNanjing Medical University, Ministry of Education, Nanjing 211166, ChinaState Key Laboratory of Reproductive MedicineWuxi Maternal and Child Health Hospital Affiliated to Nanjing Medical University, Wuxi 214002, ChinaJiangsu Provincial Center for Disease Control and PreventionNanjing 210009, ChinaState Key Laboratory of Reproductive MedicineNanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing 210004, ChinaState Key Laboratory of Reproductive MedicineDepartment of Gynaecology, First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing 210029, China Department of Gynaecology and ObstetricsNanjing Jiangning Hospital Affiliated to Nanjing Medical University, Nanjing 211100, ChinaState Key Laboratory of Reproductive MedicineSchool of Public Health, Institute of Toxicology, Nanjing Medical University, 101 Longmian Road, Nanjing 211166, ChinaKey Laboratory of Modern ToxicologyNanjing Medical University, Ministry of Education, Nanjing 211166, ChinaState Key Laboratory of Reproductive MedicineWuxi Maternal and Child Health Hospital Affiliated to Nanjing Medical University, Wuxi 214002, ChinaJiangsu Provincial Center for Disease Control and PreventionNanjing 210009, ChinaState Key Laboratory of Reproductive MedicineNanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing 210004, ChinaState Key Laboratory of Reproductive MedicineDepartment of Gynaecology, First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing 210029, China Department of Gynaecology and ObstetricsNanjing Jiangning Hospital Affiliated to Nanjing Med
Department of Gynaecology and ObstetricsNanjing Jiangning Hospital Affiliated to Nanjing Medical University, Nanjing 211100, ChinaState Key Laboratory of Reproductive MedicineSchool of Public Health, Institute of Toxicology, Nanjing Medical University, 101 Longmian Road, Nanjing 211166, ChinaKey Laboratory of Modern ToxicologyNanjing Medical University, Ministry of Education, Nanjing 211166, ChinaState Key Laboratory of Reproductive MedicineWuxi Maternal and Child Health Hospital Affiliated to Nanjing Medical University, Wuxi 214002, ChinaJiangsu Provincial Center for Disease Control and PreventionNanjing 210009, ChinaState Key Laboratory of Reproductive MedicineNanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing 210004, ChinaState Key Laboratory of Reproductive MedicineDepartment of Gynaecology, First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing 210029, China.
Eur J Endocrinol. 2015 Mar;172(3):227-33. doi: 10.1530/EJE-14-0615. Epub 2014 Nov 24.
To assess whether single nucleotide polymorphisms of HSD17B5 (AKR1C3) (rs1937845 and rs12529) and HSD17B6 (rs898611) are associated with polycystic ovary syndrome (PCOS) in a Chinese population.
A case-control study was conducted to investigate the relation between HSD17B5 and HSD17B6 polymorphisms and PCOS.
In this study, 335 patients with PCOS and 354 controls were recruited. The genotypes of HSD17B5 (rs1937845 and rs12529) and HSD17B6 (rs898611) were detected by the TaqMan method.
We found that the genotypic frequencies of the rs1937845 polymorphism were different in subjects with PCOS compared with control, with the CT genotype being more commonly found in patients with PCOS than in controls (P=0.005). We observed a significantly 1.74-fold higher risk of CT genotype in the polymorphism rs1937845 in women with PCOS vs the control group (adjusted odds ratio (OR), 1.74; 95% CI=1.19-2.54; P=0.005). A similar, significant 1.47-fold higher risk (adjusted OR, 1.47; 95% CI=1.07-2.03; P=0.018) was demonstrated for T allele of polymorphism rs1937845 associated with PCOS. In patients with PCOS, the rs12529 (G>C) and rs1937845 (C>T) polymorphisms were strongly associated with the high level of testosterone. The TT carriers of polymorphism rs1937845 had a significantly increased homeostatic model assessment-B% (HOMA-B%) (P=0.045) and that might be associated with the high risk of insulin resistance. However, no significant difference was found in genotype or allele distributions of the polymorphisms rs12529 of HSD17B5 and rs898611 of HSD17B6 between patients with PCOS and controls. Additionally, the two polymorphisms of HSD17B5 are associated with hyperandrogenemia in patients with PCOS. In conclusion, our findings showed a significant statistical association between HSD17B5 rs1937845 and PCOS risk in Chinese women. The CT genotype and T allele frequency are influenced significantly to a higher extent in patients with PCOS than controls. Further studies are needed to confirm the results and find out the exact molecular mechanism of the polymorphism on the risk of hyperandrogenemia and PCOS.
评估 HSD17B5（AKR1C3）（rs1937845 和 rs12529）和 HSD17B6（rs898611）的单核苷酸多态性是否与中国人群的多囊卵巢综合征（PCOS）有关。
病例对照研究旨在调查 HSD17B5 和 HSD17B6 多态性与 PCOS 之间的关系。
本研究纳入了 335 例 PCOS 患者和 354 例对照。采用 TaqMan 法检测 HSD17B5（rs1937845 和 rs12529）和 HSD17B6（rs898611）的基因型。
我们发现，与对照组相比，PCOS 患者中 rs1937845 多态性的基因型频率不同，CT 基因型在 PCOS 患者中比对照组更常见（P=0.005）。与对照组相比，PCOS 患者中 rs1937845 多态性的 CT 基因型发生的风险显著增加了 1.74 倍（校正优势比（OR），1.74；95%CI=1.19-2.54；P=0.005）。与 PCOS 相关的 rs1937845 多态性 T 等位基因也显示出类似的、显著的 1.47 倍（校正 OR，1.47；95%CI=1.07-2.03；P=0.018）的高风险。在 PCOS 患者中，rs12529（G>C）和 rs1937845（C>T）多态性与睾酮水平升高密切相关。rs1937845 多态性 TT 携带者的稳态模型评估-B%（HOMA-B%）显著升高（P=0.045），这可能与胰岛素抵抗的高风险有关。然而，PCOS 患者和对照组之间 rs12529 多态性 HSD17B5 和 rs898611 多态性 HSD17B6 的基因型或等位基因分布无显著差异。此外，HSD17B5 的两个多态性与 PCOS 患者的高雄激素血症有关。总之，我们的研究结果表明，在中国女性中，HSD17B5 rs1937845 与 PCOS 风险之间存在显著的统计学关联。与对照组相比，CT 基因型和 T 等位基因频率在 PCOS 患者中受到的影响更为显著。需要进一步的研究来确认这些结果，并找出该多态性在高雄激素血症和 PCOS 风险中的确切分子机制。
