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Genetic association between PAX2 and mullerian duct anomalies in Han Chinese females

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

The study aims to investigate the genetic association between paired box gene 2 (PAX2) and mullerian duct anomalies (MDA) in Chinese Han females.

Methods

Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) was used to identify the genotypes of three tag single nucleotide polymorphisms (SNPs) in PAX2 in 362 MDA cases and 406 controls.

Results

We found that one tag SNP (rs12266644) of PAX2 was associated with susceptibility to MDA. The genotype distributions of the SNP rs12266644 have a statistically significant difference in the MDA patients and controls with a p value = 0.008. In the dominant model, we also observed that the GT + TT genotype increased the risk for MDA (p = 0.015, OR = 1.637, 95 % CI = 1.096–2.443).

Conclusion

The polymorphism rs12266644 of PAX2 might be a risk factor for MDA in Chinese Han females.

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Acknowledgments

The authors thank all the participants in this study; without them, the research could not have been performed. This study was supported by the National Natural Science Foundation of China (81370691), the National Basic Research Program of China (2012CB944704), and the Research Fund of National Health and Family Planning Commission of China (201402004).

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    Authors and Affiliations

    1. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China

      Zuying Xu, Qiong Xing, Huifen Xiang, Yuping Xu, Xiaojin He & Yunxia Cao

    2. Institute of Reproductive Genetics, Anhui Medical University, Hefei, China

      Zuying Xu, Qiong Xing, Huifen Xiang, Yuping Xu, Xiaojin He & Yunxia Cao

    3. Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China

      Zuying Xu, Qiong Xing, Huifen Xiang, Yuping Xu, Xiaojin He & Yunxia Cao

    4. Graduate School of Peking Union Medical College, Beijing, China

      Shinan Wu & Binbin Wang

    5. Center for Genetics, National Research Institute for Family Planning, 12 Dahuisi Road, Haidian, Beijing, 100081, China

      Shinan Wu, Xi Wang & Binbin Wang

    6. Department of Medical Genetics, The Capital Medical University, Beijing, China

      Jing Wang

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    1. Zuying Xu
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    2. Shinan Wu
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    4. Xi Wang
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    Corresponding authors

    Correspondence to Binbin Wang or Yunxia Cao.

    Ethics declarations

    All the participants signed written informed consents. Our experiment was approved by the local ethics committee and conformed to the ethical guidelines of the 1975 Declaration of Helsinki.

    Conflict of interest

    The authors declare that they have no conflict of interest.

    Additional information

    Capsule The PAX2 variant rs12266644 might increase the risk for mullerian duct anomalies in Chinese women.

    Zuying Xu and Shinan Wu contributed equally to this work.

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    Xu, Z., Wu, S., Xing, Q. et al. Genetic association between PAX2 and mullerian duct anomalies in Han Chinese females. J Assist Reprod Genet 34, 125–129 (2017). https://doi.org/10.1007/s10815-016-0807-0

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    • DOI: https://doi.org/10.1007/s10815-016-0807-0

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