KISS1多态性和单倍型与多囊卵巢综合征的相关性分析。

IF 2.7 4区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

British Journal of Biomedical Science Pub Date : 2021-10-01 Epub Date: 2021-01-22 DOI:10.1080/09674845.2020.1864109

M Farsimadan, F Moammadzadeh Ghosi, S Takamoli, H Vaziri

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引用次数: 11

摘要

简介:KISS1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经常在不同生殖疾病的患者中被发现。我们假设KISS1多态性与多囊卵巢综合征(PCOS)之间存在联系。材料与方法:为了寻找KISS1基因多态性rs4889 C > G、rs12998 G > A和rs35431622 A > G与PCOS的关系，我们采集了385名对照和385名PCOS女性的770份血样。提取DNA，用PCR对KISS1变异进行分型。结果:rs12998 G > A在显性、显性、共显性和等位基因模型中均与PCOS相关(pg与PCOS无关)。进一步分析表明，与对照组相比，病例中C-G-G单倍型更为常见，G-A-G单倍型较少。结论:rs12998 G > A和rs4889 C > G可能与PCOS的病理生理有关。

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Association analysis of KISS1 polymorphisms and haplotypes with polycystic ovary syndrome.

Introduction: KISS1 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 KISS1 polymorphisms and polycystic ovary syndrome (PCOS).

Materials and methods: In order to find links between KISS1 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 KISS1 variants by PCR.

Results: 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.

Conclusion: KISS1 variants rs12998 G > A and rs4889 C > G may be linked to the pathophysiology of PCOS.

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来源期刊

British Journal of Biomedical Science 医学-医学实验技术

CiteScore

4.40

自引率

15.80%

发文量

审稿时长

>12 weeks

期刊介绍： The British Journal of Biomedical Science is committed to publishing high quality original research that represents a clear advance in the practice of biomedical science, and reviews that summarise recent advances in the field of biomedical science. The overall aim of the Journal is to provide a platform for the dissemination of new and innovative information on the diagnosis and management of disease that is valuable to the practicing laboratory scientist.