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Association of single nucleotide polymorphisms in the USF1, GTF2A1L and OR2W3 genes with non-obstructive azoospermia in the Chinese population

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

Abstract

Purpose

To research the association between the single nucleotide polymorphisms (SNPs) of three spermatogenesis-related genes (USF1, GTF2A1L and OR2W3) and non-obstruction azoospermia (NOA).

Methods

We investigated 361 NOA cases and 368 controls from the Chinese Han population, and we used Sequenom iplex technology to analyze the candidate 9 SNPs from the USF1, GTF2A1L and OR2W3 genes.

Results

In this study, we found that the variant rs2516838 of USF1 was associated with NOA susceptibility (P = 0.020, OR = 1.436), and the haplotype TCG of the variants rs1556259, rs2516838, and rs2774276 of USF1 conferred an increased risk of NOA (P = 0.019, OR = 1.436). Furthermore, we found that the rs11204546 genotype of OR2W3 and the rs11677854 genotype of GTF2A1L were correlated with the FSH level in the patients (P = 0.004 and P = 0.018, respectively).

Conclusions

Our results provided a new insight into susceptibility of USF1 variant with male infertility. Clinically, the SNPs (rs11204546 of OR2W3 and rs11677854 of GTF2A1L ) might be additional valuable molecular predictive markers for assessing the treatment of NOA patients.

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Acknowledgments

We were grateful to the participants: the patients, the clinicians and the co-authors in this study.

Declaration of interests

The authors declared no potential conflicts of interest in terms of the research, authorship, and/or publication of this article. The authors alone were responsible for the content and writing of the paper.

Author information

Authors and Affiliations

  1. Department of Biology, School of Life Sciences, Anhui Medical University, Hefei, 230032, China

    Yan Zhang, Lei Ye & Xu-Shi Xie

  2. State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Anhui Medical University, Hefei, 230032, China

    Yan Zhang, Lei Ye, Xu-Shi Xie, Fu-Sheng Zhou, Xian-Bo Zuo & Wei-Dong Du

  3. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230032, China

    Xiao-Jin He, Bing Song & Yun-Xia Cao

  4. Reproductive Medicine Center, Yijishan Hospital, Wannan Medical College, Wuhu, 241001, China

    Jian Ruan

  5. Sektion Experimentelle Anaesthesiologie, Universitaetsklinikum Ulm, Ulm, 780080, Germany

    Wei-Dong Du

Authors
  1. Yan Zhang
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  2. Xiao-Jin He
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  3. Bing Song
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  4. Lei Ye
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  7. Fu-Sheng Zhou
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  9. Yun-Xia Cao
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  10. Wei-Dong Du
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Corresponding authors

Correspondence to Yun-Xia Cao or Wei-Dong Du.

Additional information

Capsule USF1 variant rs2516838 might confer risk to NOA.

Yan Zhang and Xiao-Jin He contributed equally to this manuscript.

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Zhang, Y., He, XJ., Song, B. et al. Association of single nucleotide polymorphisms in the USF1, GTF2A1L and OR2W3 genes with non-obstructive azoospermia in the Chinese population. J Assist Reprod Genet 32, 95–101 (2015). https://doi.org/10.1007/s10815-014-0369-y

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  • DOI: https://doi.org/10.1007/s10815-014-0369-y

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