Family-based analysis of -675 4G/5G polymorphism in the PAI-1 gene of polycystic ovary syndrome in Chinese population

• Published in: Journal of obstetrics and gynaecology Vol. 42; no. 7; p. 3304
• Main Authors: Song, Xiaocui, Ge, Li, Wang, Dongsha, Li, Li, Ma, Dongmei, Li, Xiu
• Format: Journal Article
• Language: English
• Published: England 03.10.2022
• Subjects: East Asian People; Female; Genotype; Humans; Insulin Resistance - genetics; Plasminogen Activator Inhibitor 1 - genetics; Polycystic Ovary Syndrome - complications; Polymorphism, Genetic; Polycystic ovary syndrome; transmission disequilibrium test; PAI-1 gene; single nucleotide polymorphism; 4G/5G polymorphism
• ISSN: 1364-6893
• DOI: 10.1080/01443615.2022.2114326

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 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). 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). PAI-1 gene was unlikely to play a major role in the aetiology of PCOS.