Analysis of HIF2α polymorphisms in infertile women with polycystic ovary syndrome or unexplained infertility.
Analysis of HIF2α polymorphisms in infertile women with polycystic ovary syndrome or unexplained infertility.
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多囊卵巢综合征或不明原因不孕不孕女性HIF2α多态性分析
DOI：
10.3389/fendo.2022.986567
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发表时间：
2022
影响因子：
5.2
通讯作者：
中科院分区：
文献类型：
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作者：
[目的]探讨多囊卵巢综合征(PCOS)或不明原因不孕症(UI)患者的HIF2基因α多态性和糖代谢的关系。不孕组(n=148)包括96例多囊卵巢综合征患者、52例尿崩症患者和176例非不孕症患者作为健康对照组。采用基质辅助激光解吸电离飞行时间质谱仪(MALDITOFMS)基因分型技术，对29个HIF2α单核苷酸多态(SNPs)进行了基因分型。对遗传关联进行统计学分析。对α基因进行等位基因频率、基因型分布和单倍型分析。测定体重指数(BMI)、腰围、尿酸(UA)、超敏C反应蛋白(HsCRP)、血脂、血糖和胰岛素耐量。与UI患者和健康女性相比，患有PCOS的不孕不育女性的BMI和腰围更高，hsCRP和尿酸(UA)水平升高，糖耐量受损，血浆胰岛素水平升高。HIF2基因α单核苷酸多态分析显示，rs4953361等位基因和基因型频率与多囊卵巢综合征不孕症患者显著相关。HIF2α多态的单倍型分析证实单倍型TgG和TgA与多囊卵巢综合征不孕妇女相关。携带rs4953361基因的女性的体重指数、负荷后血糖和胰岛素水平显著高于携带GG基因的女性。患有多囊卵巢综合征的不孕妇女比患有尿崩症的不孕妇女更容易出现代谢紊乱。这是首次报道在中国汉族人群中，HIF2基因α多态(Rs4953361)与患有多囊卵巢综合征而不是尿失禁的不孕妇女的风险有关。这些结果需要在更大的人口中复制。在这项观察性研究中，我们没有报告对人类参与者进行健康护理干预的结果。该研究由重庆医科大学第一附属医院人体研究伦理委员会批准。只有在解释了研究的目的并获得签署的知情同意书后，才能收集临床数据和外周血样。
To evaluate HIF2α polymorphisms and glucose metabolism in a group of women with polycystic ovary syndrome (PCOS) or unexplained infertility (UI). The infertile group (n=148) consisted of 96 women with PCOS, 52 women with UI, and176 women without infertility as a healthy control group. We genotyped 29 single nucleotide polymorphisms (SNPs) of HIF2α by using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS)-based genotyping technology. The genetic associations were analyzed statistically. Allele frequency, genotype distribution and haplotype analyze of the HIF2α polymorphisms were performed. Body mass index (BMI), waist circumference, uric acid (UA), high-sensitivity C-reactive protein (hsCRP), lipids, glucose and insulin tolerance - were also measured. Infertile women with PCOS had a higherBMI and waist circumference, elevated hsCRP and uric acid (UA) levels, impaired glucose tolerance, and increased levels of plasma insulin compared to UI patients and healthy women. SNP analysis of HIF2α revealed that the allele and genotype frequencies of rs4953361 were significantly associated with infertile women with PCOS. Haplotype analysis of the HIF2α polymorphism identified haplotypes TGG and TGA as being associated with infertile women with PCOS. Women with the AA genotype of rs4953361 had a significantly higher BMI and post load plasma glucose and insulin levels than those of women with the GG genotype. Infertile women with PCOS more commonly have metabolic disturbances than those with UI. This is the first study to report an association between HIF2α polymorphisms (rs4953361) and the risk of infertile women with PCOS, not UI, in Han Chinese population. These results require replication in larger populations. In this observational study, we did not report the results of a health care intervention on human participants. The study was approved by the Human Research Ethics Committee of the First Affiliated Hospital of Chongqing Medical University. Clinical data and peripheral blood samples were collected only after explaining the objectives of the study and obtaining a signed informed consent form.
DOI：
10.1262/jrd.2014-014
发表时间：
2014
期刊：
The Journal of reproduction and development
影响因子：
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作者：
Fadhillah;Yoshioka S;Nishimura R;Okuda K
通讯作者：
Okuda K