Analysis of HIF2 alpha polymorphisms in infertile women with polycystic ovary syndrome or unexplained infertility

作者全名："Zheng, Xiaoya; Ma, Jiani; Hu, Min; Long, Jian; Wei, Qiang; Ren, Wei"

作者地址："[Zheng, Xiaoya; Ma, Jiani; Long, Jian; Ren, Wei] Chongqing Med Univ, Affiliated Hosp 1, Dept Endocrinol, Chongqing, Peoples R China; [Hu, Min] Chongqing Med Univ, Affiliated Hosp 1, Reprod & Infertil Ctr, Chongqing, Peoples R China; [Wei, Qiang] Chongqing Jiulongpo Dist Hosp Tradit Chinese Med, Prevent Dis Dept, Chongqing, Peoples R China"

通信作者："Zheng, XY (通讯作者)，Chongqing Med Univ, Affiliated Hosp 1, Dept Endocrinol, Chongqing, Peoples R China."

来源：FRONTIERS IN ENDOCRINOLOGY

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:000861309700001

JCR分区：Q2

影响因子：5.2

年份：2022

卷号：13

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：infertility; HIF2 alpha gene; polymorphism; obesity; insulin

摘要："Objective: To evaluate HIF2 alpha polymorphisms and glucose metabolism in a group of women with polycystic ovary syndrome (PCOS) or unexplained infertility (UI). Patients: The infertile group (n=148) consisted of 96 women with PCOS, 52 women with UI, and176 women without infertility as a healthy control group. Intervention: We genotyped 29 single nucleotide polymorphisms (SNPs) of HIF2 alpha by using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS)-based genotyping technology. The genetic associations were analyzed statistically. Main outcome measures: Allele frequency, genotype distribution and haplotype analyze of the HIF2 alpha 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. Results: 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 HIF2 alpha revealed that the allele and genotype frequencies of rs4953361 were significantly associated with infertile women with PCOS. Haplotype analysis of the HIF2 alpha 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. Conclusion: Infertile women with PCOS more commonly have metabolic disturbances than those with UI. This is the first study to report an association between HIF2 alpha 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."

基金机构：National Natural Science Foundation of China Youth Program [81900733]; Chongqing municipal health and Family Planning Commission Fund [2021MSXM013]; Bethune Charity Foundation [G-X-2020-1107-14]

基金资助正文："This project was supported by the National Natural Science Foundation of China Youth Program (Grant No.81900733) in design of the study, the Chongqing municipal health and Family Planning Commission Fund (Number: 2021MSXM013) in collection of data, Bethune Charity Foundation (G-X-2020-1107-14) in interpretation of data, and the National Key Clinical Specialties Construction Program of China (2011) in writing and publication the manuscript."