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Genes & Genomics

, Volume 41, Issue 1, pp 61–70 | Cite as

Association study of the three functional polymorphisms (TAS2R46G>A, OR4C16G>A, and OR4X1A>T) with recurrent pregnancy loss

  • Chang Soo Ryu
  • Jung Hyun Sakong
  • Eun Hee Ahn
  • Jung Oh Kim
  • Daeun Ko
  • Ji Hyang Kim
  • Woo Sik Lee
  • Nam Keun KimEmail author
Research Article
  • 102 Downloads

Abstract

This study was purposed to investigate whether genetic polymorphisms in the function of stop-gain are associated with a fetal or placental development play roles and a development of idiopathic recurrent pregnancy loss (RPL) in Korean females. Three stop-gain polymorphisms were selected using next-generation sequencing screening, which allows for the rigorous examination and discovery of previously uncharacterized stop-gain genes and stop-gain expression profiles. Accordingly, we investigated the association of stop-gain polymorphisms in Korean women with RPL. Three functional polymorphisms in the TAS2R46G>A (rs2708381), OR4C16G>A (rs1459101), and OR4X1A>T (rs10838851) genes were genotyped using polymerase chain reaction (PCR)—restriction fragment length polymorphism assays and real-time PCR analysis. We determined that the OR4C16G>A polymorphism was associated with idiopathic RPL in Korean women (Adjusted odds ratio [AOR] 1.782; 95% confidence interval [CI] 1.004–3.163; P = 0.048, and AOR 1.766; 95% CI 1.020–3.059; P = 0.042). In addition, the prevalence of RPL was increased in women with the OR4C16GA + AA genotype and blood coagulation measures of prothrombin time (PT) > 10.4 s (AOR 8.292; 95% CI 2.744–25.054). We suggest that the OR4C16G>A polymorphism might serve as a clinically useful biomarker for the development, prevention, and prognosis of RPL.

Keywords

Next-generation sequencing (NGS) Stop gain mutation Nonsense mutation Polymorphism Recurrent pregnancy loss (RPL) 

Notes

Acknowledgements

This study was partly supported by a grant of the Korea Healthcare Technology R&D Project (HI15C1972010015), Ministry for Health, Welfare & Family Affairs, Republic of Korea.

Author contributions

CSR and NKK designed and directed the whole project. EHA, JHK, and WSL collected the blood samples from recurrent pregnancy loss patients and control subjects. CSR and JHS performed the experiments, collected the results, and analyzed the data. NKK and EHA discussed and interpreted the data and results. CSR and JHS wrote the first draft of the manuscript. NKK, JOK, DK and CSR revised the paper. All authors contributed to and approved the final manuscript.

Compliance with ethical standards

Conflict of interest

Chang Soo Ryu, Jung Hyun Sakong, Eun Hee Ahn, Jung Oh Kim, Daeun Ko, Ji Hyang Kim, Woo Sik Lee and Nam Keun Kim declare that they have no conflict of interest.

Ethical approval

This study had been approved by the Institutional Review Board of CHA Bundang Medical Center (IRB number: BD2010‑123D) and written informed consent was provided by all patients.

Supplementary material

13258_2018_738_MOESM1_ESM.docx (324 kb)
Supplementary material 1 (DOCX 324 KB)

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Copyright information

© The Genetics Society of Korea and Springer Nature B.V. 2018

Authors and Affiliations

  • Chang Soo Ryu
    • 1
  • Jung Hyun Sakong
    • 1
  • Eun Hee Ahn
    • 2
  • Jung Oh Kim
    • 1
  • Daeun Ko
    • 4
  • Ji Hyang Kim
    • 2
  • Woo Sik Lee
    • 3
  • Nam Keun Kim
    • 1
    Email author
  1. 1.Department of Biomedical Science, College of Life ScienceCHA UniversitySeongnamSouth Korea
  2. 2.Department of Obstetrics and Gynecology, CHA Bundang Medical CenterCHA UniversitySeongnamSouth Korea
  3. 3.Fertility Center of CHA Gangnam Medical CenterCHA UniversityGangnamSouth Korea
  4. 4.Department of Anesthesiology and Pain Medicine, CHA Bundang Medical CenterCHA UniversitySeongnamSouth Korea

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