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Journal of Assisted Reproduction and Genetics

, Volume 34, Issue 1, pp 139–147 | Cite as

Single nucleotide polymorphisms in the TGF-β1 gene are associated with polycystic ovary syndrome susceptibility and characteristics: a study in Korean women

  • Eun Youn Roh
  • Jong Hyun Yoon
  • Eun Young Song
  • Jin Ju Kim
  • Kyu Ri Hwang
  • Soo Hyun Seo
  • Sue ShinEmail author
Genetics

Abstract

Purpose

Although many hypotheses regarding the pathogenesis of polycystic ovary syndrome (PCOS) have been generated, genetic studies have not identified specific genes that play a role in PCOS etiopathogenesis. This study aimed to investigate the relationship between TGF-β1 gene polymorphism and PCOS in Koreans.

Method

A total of 51 Korean women with PCOS and 69 healthy women were enrolled. We analyzed 4 single nucleotide polymorphisms (SNPs) of the TGF-β1 gene (rs11466313, rs1800469, rs2317130, and rs4803457). We also analyzed laboratory measurements, such as free testosterone, glucose, and cholesterol.

Results

The frequencies of rs1800469T allele negativity, rs4803457T allele negativity, the rs1800469CC genotype, and the rs4803457CC genotype showed positive associations with PCOS (P = 0.003, P = 0.027, P = 0.009, and P=0.031, respectively), whereas the haplotypes rs1800469C–rs4803457T and rs1800469T–rs4803457T showed negative associations with PCOS. A strong protective effect of the “rs1800469CT–rs4803457TT” combination (OR = 0.09) and a strong risk effect of “rs1800469CC–rs4803457CC” (OR = 6.23) for PCOS were observed. The rs1800469C/T and rs2317130C/T SNPs exhibited associations with several laboratory measurements with various levels of significance.

Conclusion

The results demonstrated an association of TGF-β1 gene polymorphisms with the development and/or characteristics of PCOS in the Korean population.

Keywords

Polycystic ovary syndrome TGF-β1 gene polymorphism Testosterone Korean 

Notes

Compliance with ethical standards

This study complied with ethical standards. Study design, including subject enrollment and informed consent, were approved by the Institutional Review Board of Seoul National University Boramae Medical Center (16-2015-144).

Conflict of interest

The authors declare that they have no conflict of interest.

Funding

No funding to report for this submission.

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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  • Eun Youn Roh
    • 1
    • 2
  • Jong Hyun Yoon
    • 1
    • 2
  • Eun Young Song
    • 2
  • Jin Ju Kim
    • 3
  • Kyu Ri Hwang
    • 4
  • Soo Hyun Seo
    • 1
    • 2
  • Sue Shin
    • 1
    • 2
    Email author
  1. 1.Department of Laboratory MedicineSeoul National University Boramae Medical CenterSeoulRepublic of Korea
  2. 2.Department of Laboratory MedicineSeoul National University College of MedicineSeoulRepublic of Korea
  3. 3.Department of Obstetrics and GynecologySeoul National University Healthcare System Gangnam CenterSeoulRepublic of Korea
  4. 4.Departments of Obstetrics and GynecologySeoul National University Boramae Medical CenterSeoulRepublic of Korea

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