Nazeer Kiran, Munawar Lone Nasira, Sadique Shumaila, Sultan Sikandar, Zia Eupash Amna, Riaz Saba
Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore, Pakistan.
Gynecology Unit: 2, Jinnah Hospital, Lahore, Pakistan.
Saudi J Biol Sci. 2021 Jun;28(6):3483-3489. doi: 10.1016/j.sjbs.2021.03.014. Epub 2021 Mar 14.
Polymorphism in the angiotensin-converting enzyme gene (ACE) is responsible for elevated ACE concentrations in plasma. High ACE levels induce insulin resistance and hyperandrogenism, which are the main attributes of polycystic ovary syndrome (PCOS). Therefore, it was hypothesized that I/D polymorphism plays a role in the pathogenesis of PCOS.
A case-control study was designed to investigate the association of I/D polymorphism of the ACE gene with PCOS in Pakistani women of reproductive age.
ACE I/D polymorphism was assessed in 252 women of age group 16-40 years. For genotypic analysis, PCR amplification of genomic DNA was carried out. Statistical analysis was performed to interpret the results using SPSS software.
Our study showed that PCOS women were more likely to have a high body mass index and waist circumferences. Most PCOS patients had menstrual irregularities 99.3%, hirsutism 75.2% and cysts in ovaries 66.6%, along with other hyperandrogenic conditions (P-value = 0.001). The genotypic and allelic frequencies were significantly different between patients and controls. There was a significant association of three genotypes with the ratio of LH: FSH among PCOS patients (P = 0.05). Anthropometric characters, comorbidities, clinical symptoms, and PCOS conditions showed no statistical significance with ACE polymorphism.
ACE I/D polymorphism was not found associated with clinical conditions of PCOS in women of reproductive age. However, it was associated with atypical steroidogenesis. So, it indicates that ACE I/D polymorphism aggravates the pathogenesis of PCOS.
血管紧张素转换酶基因(ACE)的多态性导致血浆中ACE浓度升高。高ACE水平会引发胰岛素抵抗和高雄激素血症,而这正是多囊卵巢综合征(PCOS)的主要特征。因此,有人推测I/D多态性在PCOS的发病机制中起作用。
设计一项病例对照研究,以调查ACE基因的I/D多态性与巴基斯坦育龄妇女PCOS之间的关联。
对252名年龄在16 - 40岁的女性进行ACE I/D多态性评估。进行基因组DNA的PCR扩增以进行基因分型分析。使用SPSS软件进行统计分析以解释结果。
我们的研究表明,PCOS女性更有可能具有较高的体重指数和腰围。大多数PCOS患者有月经不规律(99.3%)、多毛症(75.2%)和卵巢囊肿(66.6%),以及其他高雄激素血症情况(P值 = 0.001)。患者和对照组之间的基因型和等位基因频率存在显著差异。在PCOS患者中,三种基因型与LH:FSH比值之间存在显著关联(P = 0.05)。人体测量特征、合并症、临床症状和PCOS情况与ACE多态性无统计学意义。
在育龄女性中,未发现ACE I/D多态性与PCOS的临床情况相关。然而,它与非典型类固醇生成有关。所以,这表明ACE I/D多态性加剧了PCOS的发病机制。