Farsimadan M, Moammadzadeh Ghosi F, Takamoli S, Vaziri H
Department of Biology, Faculty of Sciences, University of Guilan, Rasht/Iran.
Department of Medical Microbiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Br J Biomed Sci. 2021 Oct;78(4):201-205. doi: 10.1080/09674845.2020.1864109. Epub 2021 Jan 22.
play an essential role in human reproductive functions by regulating the hypothalamic-pituitary-gonadal axis. Loss-of-function mutations in this gene have been frequently identified in patients with different reproductive disorders. We hypothesised links between polymorphisms and polycystic ovary syndrome (PCOS).
In order to find links between polymorphisms rs4889 C > G, rs12998 G > A, and rs35431622 A > G with PCOS, 770 blood samples were obtained from 385 control and 385 PCOS women. DNA was extracted, and genotyped for variants by PCR.
rs12998 G > A was linked to PCOS in dominant (p < 0.001), recessive (p < 0.001), co-dominant (p < 0.001), and allelic models (p < 0.001). In addition, rs4889 C > G was linked in recessive, dominant, co-dominant, and allelic models (p < 0.001). rs35431622 A > G was not linked to PCOS. Further analysis indicated that C-G-G haplotype was more common and G-A-G haplotype was less prevalent in cases compared with controls.
variants rs12998 G > A and rs4889 C > G may be linked to the pathophysiology of PCOS.
通过调节下丘脑 - 垂体 - 性腺轴在人类生殖功能中发挥重要作用。该基因的功能丧失突变在患有不同生殖障碍的患者中经常被发现。我们推测了多态性与多囊卵巢综合征（PCOS）之间的联系。
为了寻找多态性rs4889 C > G、rs12998 G > A和rs35431622 A > G与PCOS之间的联系，从385名对照女性和385名PCOS女性中获取了770份血样。提取DNA，并通过PCR对变体进行基因分型。
rs12998 G > A在显性（p < 0.001）、隐性（p < 0.001）、共显性（p < 0.001）和等位基因模型（p < 0.001）中与PCOS相关。此外，rs4889 C > G在隐性、显性、共显性和等位基因模型中也与PCOS相关（p < 0.001）。rs35431622 A > G与PCOS无关。进一步分析表明，与对照组相比，C - G - G单倍型在病例中更常见，而G - A - G单倍型在病例中不太普遍。
变体rs12998 G > A和rs4889 C > G可能与PCOS的病理生理学相关。
