Association of CYP17A1 gene -34T/C polymorphism with polycystic ovary syndrome in Han Chinese population. (13th August 2014)

• Record Type: Journal Article
• Authors: Li, Li; Gu, Zhen-Peng; Bo, Qi-Mei; Wang, Dong; Yang, Xing-Sheng; Cai, Guo-Hua
• Is Part Of: Gynecological endocrinology. Volume 31:Number 1(2015:Jan.)
• Page Start: 40
• Page End: 43
• Publication Date: 2014-08-13
• Subjects: CYP17A1 -- polycystic ovary syndrome -- SNP -- testosterone; Endocrine gynecology -- Periodicals; Generative organs, Female -- Diseases -- Periodicals; 618.1
• DOI: 10.3109/09513590.2014.947948
• Languages: English
• ISSNs: 0951-3590

Abstract

Abstract: Purpose : To investigate the influence of the cytochrome P450 17α ( CYP17A1 ) gene -34T/C polymorphism in the pathogenesis of polycystic ovary syndrome (PCOS) in Han Chinese population. Methods : Three-hundred eighteen patients with PCOS and 306 controls were recruited and the CYP17A1 -34T/C polymorphism was genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Furthermore, the relationship of CYP17A1 -34T/C polymorphism and clinical feature parameters of PCOS patients was also analyzed. Results : The prevalence rates of CYP17A1 genotype TT, TC and CC were 49.69%, 43.71% and 6.6% in the case group and those were 44.77%, 46.08% and 9.15% in the control group. The frequencies of CYP17A1 T and C alleles were 71.54% and 28.46% in the case group, and those were 67.81% and 32.19% in the control group. Neither the genotypic nor the allelic distribution was significantly different between the cases and controls. However, the PCOS patients with the genotype of CC had significantly higher total testosterone levels and Homeostatic Model Assessment for Insulin Resistance (HOMA-IR) than those with the genotype of TT or TC. Conclusions : The CYP17A1 gene -34T/C polymorphism might not be directly correlated with the PCOS, but might influence PCOS via the association of testosterone level and the HOMA-IR. Chinese abstract: 目的：探讨细胞色素P450 17a（CYP17A1）基因-34T/C的多态性对中国汉族人群多囊卵巢综合征发病机制的影响。 方法：318名多囊卵巢综合征患者及306名对照者纳入研究，CYP17A1 -34T/C多态性基因分型采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)。此外，还对CYP17A1 -34T/C多态性与多囊卵巢综合征的临床特征参数之间的关系进行了分析。 结果：病例组CYP17A1基因型TT、TC和CC的发生率分别为49.69%，43.71%和6.6%，而对照组发生率分别为44.77%、 46.08%和9.15%。病例组CYP17A1 T、C等位基因的频率分别为71.54%和28.46%，而对照组分别为67.81%和32.19%。病例组和对照组之间无论是基因型或者等位基因的分布都没有显著差异。然而，CC基因型的PCOS患者与TT或者TC基因型患者相比，总的睾酮水平和HOMA-IR(稳态模型评估胰岛素抵抗)值明显升高。 结论：CYP17A1基因-34t/C多态性可能不是直接与PCOS相关，但是可能通过与睾酮水平和HOMA-IR的关系影响PCOS。