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

  • Genetics
  • Published:
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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.

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Authors and Affiliations

  1. Department of Laboratory Medicine, Seoul National University Boramae Medical Center, Seoul, Republic of Korea

    Eun Youn Roh, Jong Hyun Yoon, Soo Hyun Seo & Sue Shin

  2. Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea

    Eun Youn Roh, Jong Hyun Yoon, Eun Young Song, Soo Hyun Seo & Sue Shin

  3. Department of Obstetrics and Gynecology, Seoul National University Healthcare System Gangnam Center, Seoul, Republic of Korea

    Jin Ju Kim

  4. Departments of Obstetrics and Gynecology, Seoul National University Boramae Medical Center, Seoul, Republic of Korea

    Kyu Ri Hwang

Authors
  1. Eun Youn Roh
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  2. Jong Hyun Yoon
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  4. Jin Ju Kim
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Corresponding author

Correspondence to Sue Shin.

Ethics declarations

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).

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The authors declare that they have no conflict of interest.

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Capsule

This study demonstrates that TGF-β1 gene SNPs are associated with PCOS development (rs1800469 and rs4803457) and with PCOS characteristics in Korean women (rs1800469 and rs2317130), as assessed by laboratory and clinical measurements.

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Roh, E.Y., Yoon, J.H., Song, E.Y. et al. Single nucleotide polymorphisms in the TGF-β1 gene are associated with polycystic ovary syndrome susceptibility and characteristics: a study in Korean women. J Assist Reprod Genet 34, 139–147 (2017). https://doi.org/10.1007/s10815-016-0824-z

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  • DOI: https://doi.org/10.1007/s10815-016-0824-z

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