Affiliation:
1. Guangdong Provincial Reproductive Science Institute (Guangdong Provincial Fertility Hospital)
2. Guangdong Women and Children Hospital
Abstract
Abstract
Background
Polycystic ovarian syndrome (PCOS) is a common endocrine and metabolic disease in women. Hyperandrogenaemia (HA) and insulin resistance (IR) are the basic pathophysiological characteristics of PCOS. The aetiology of PCOS has not been fully identified and is generally believed to be related to the combined effects of genetic, metabolic, internal, and external factors. Current studies have not screened for PCOS susceptibility genes in a large population. Here, we aimed to study the effect of TGF-β1 methylation on the clinical PCOS phenotype.
Methods
In this study, three generations of family members with PCOS with IR as the main characteristic were selected as research subjects. Through whole exome sequencing and bioinformatic analysis, TGF-β1 was screened as the PCOS susceptibility gene in this family. The epigenetic DNA methylation level of TGF-β1 in peripheral blood was detected by heavy sulfite sequencing in patients with PCOS clinically characterised by IR, and the correlation between the DNA methylation level of the TGF-β1 gene and IR was analysed. We explored whether the degree of methylation of this gene affects IR and whether it participates in the occurrence and development of PCOS.
Results
The results of this study suggest that the hypomethylation of the CpG4 and CpG7 sites in the TGF-β1 gene promoter may be involved in the pathogenesis of PCOS IR by affecting the expression of the TGF-β1 gene.
Conclusions
This study provides new insights into the aetiology and pathogenesis of PCOS.
Publisher
Research Square Platform LLC
Reference57 articles.
1. Polycystic ovary syndrome -- An epidemiological study of polycystic ovary syndrome;Qiao J;Chin J Practical Gynecol Obstet,2013
2. Prenatal androgen exposure programs metabolic dysfunction in female mice;Roland AV;J Endocrinol,2010
3. Prenatal androgen exposure and transgenerational susceptibility to polycystic ovary syndrome;Risal S;Nat Med,2019
4. Functional Genetic Variation in the Anti-Müllerian Hormone Pathway in Women with Polycystic Ovary Syndrome;Gorsic LK;J Clin Endocrinol Metabolism,2019
5. Higher luteinizing hormone levels associated with antimüllerian hormone in postmenarchal daughters of women with polycystic ovarysyndrome;Crisosto AN;Fertil Steril,2019
Cited by
1 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献