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

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.

Keywords:

• Polycystic ovary syndrome
• 4G/5G polymorphism
• transmission disequilibrium test
• PAI-1 gene
• single nucleotide polymorphism

Acknowledgements

We were very grateful to all PCOS patients, their families and the staff at the Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University.

Author contributions

Xiaocui Song designed the study and analysed data. Li Ge revised the manuscript. Dongsha Wang, Li Li, Dongmei Ma and Xiu Li collected the samples and data. All authors contributed to the article and approved the submitted version.

Disclosure statement

The authors have no relevant financial or non-financial interests to disclose.

Additional information

Funding

This study was funded by National Basic Research Program of China (2011CB944502), Key Research and Development Project of Hainan Province (CN) (2012BAI32B04), Key Program for Basic Research of the Science and Technology Commission of Shanghai Municipality, China (12JC1405800) and National Natural Science Foundation of China (81471428).