Family-based analysis of -675 4G/5G polymorphism in the PAI-1 gene of polycystic ovary syndrome in Chinese population. (3rd October 2022)

• Record Type: Journal Article
• Authors: Song, Xiaocui; Ge, Li; Wang, Dongsha; Li, Li; Ma, Dongmei; Li, Xiu; Song, Xiaocui
• Is Part Of: Journal of obstetrics and gynaecology. Volume 42:Number 7(2022)
• Page Start: 3304
• Page End: 3308
• Publication Date: 2022-10-03
• Subjects: Polycystic ovary syndrome -- 4G/5G polymorphism -- transmission disequilibrium test -- PAI-1 gene -- single nucleotide polymorphism; Obstetrics -- Periodicals; Gynecology -- Periodicals; 618.05
• DOI: 10.1080/01443615.2022.2114326
• Languages: English
• ISSNs: 0144-3615

Abstract

Abstract: Previous studies have shown that 4G/5G polymorphism in promoter region of plasminogen activator inhibitor-1 (PAI-1) gene can affect insulin sensitivity by elevating the level and activity of plasma PAI-1. In order to elucidate the relationship between the polymorphism of PAI-1 gene and polycystic ovary syndrome (PCOS), we used transmission disequilibrium test (TDT) to study the family of PCOS. Eight hundred and fifty-five participants consisting of 285 trios (mother, father and offspring with PCOS) were recruited at the Center of Reproductive Medicine, Shandong University from July 2007 to August 2014. 4G/5G polymorphism of PAI-1 gene was genotyped using direct sequencing protocol and TDT was used to analyse the association between PAI-1 gene and PCOS. Though the 5G allele in PAI-1 gene was overtransmitted in families, no statistical significance existed and there was no association between PAI-1 gene and PCOS, indicating that PAI-1 gene was unlikely to play a major role in the aetiology of PCOS in Chinese population. Impact Statement: What is already known on this subject? Some studies have shown that 4G/5G polymorphism in promoter region of plasminogen activator inhibitor-1 (PAI-1) gene can affect insulin sensitivity by elevating the level and activity of plasma PAI-1, participating in the formation of insulin resistance (IR). What do the results of this study add? Though the 5G allele in PAI-1 gene was overtransmitted in families, no statistical significance existed and there was no association between PAI-1 gene and polycystic ovary syndrome (PCOS). What are the implications of these findings for clinical practice and/or further research? PAI-1 gene was unlikely to play a major role in the aetiology of PCOS.