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Association of a TDRD1 variant with spermatogenic failure susceptibility in the Han Chinese

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

Abstract

Purpose

Piwi-interacting RNAs (piRNAs) are a broad group of noncoding small RNAs that have important biological functions in germline cells and can maintain genome integrity via silencing of retrotransposons. In this study, we aimed to explore the associations between genetic variants of important genes involved in piRNA biogenesis and male infertility with spermatogenic impairment.

Methods

To this end, five single-nucleotide polymorphisms (SNPs) in the ASZ1, PIWIL1, TDRD1, and TDRD9 genes were genotyped by TaqMan allelic discrimination assays in 342 cases of nonobstructive azoospermia (NOA) and 493 controls.

Results

The SNP rs77559927 in TDRD1 was associated with a reduced risk of spermatogenic impairment. The genotypes TC and TC + CC showed odds ratios and 95 % confidence intervals of 0.73 (0.55–0.98, P = 0.034) and 0.73 (0.56–0.97, P = 0.030), respectively, in patients with NOA compared with those in the controls.

Conclusion

Thus, our results provided the first epidemiological evidence supporting the involvement of TDRD1 genetic polymorphisms in piRNA processing genes in determining the risk of spermatogenic impairment in a Han Chinese population.

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Author notes

    Authors and Affiliations

    1. Department of Urology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, 1630 Dongfang Road, Shanghai, 200127, China

      Xiao-Bin Zhu, Yong Zhu & Sha-Sha Zou

    2. State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, 200438, China

      Jian-Qi Lu & Feng Zhang

    3. Department of Andrology & PFD, Center for Men’s Health, Department of ART, Institute of Urology, Urologic Medical Center Shanghai General Hospital, Shanghai Key Lab of Reproductive Medicine, Shanghai Jiao Tong University, Shanghai, 200080, China

      Er-Lei Zhi, Zi-Jue Zhu & Zheng Li

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    1. Xiao-Bin Zhu
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    Correspondence to Zheng Li.

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    The authors declare that they have no conflicts of interest.

    Funding

    This study was supported by the Shanghai Municipal Commission of Health and Family Planning (No. 2013GY08), the Shanghai Hospital Development Center (Grant No: SHDC12014236), and the National High-Tech Research and Development Program (863) of China (2015AA020404).

    Additional information

    Capsule Thus, our results provided the first epidemiological evidence supporting the involvement of TDRD1 genetic polymorphisms in piRNA processing genes in determining the risk of spermatogenic impairment in a Han Chinese population.

    Xiao-Bin Zhu and Jian-Qi Lu contributed equally to this work.

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    Cite this article

    Zhu, XB., Lu, JQ., Zhi, EL. et al. Association of a TDRD1 variant with spermatogenic failure susceptibility in the Han Chinese. J Assist Reprod Genet 33, 1099–1104 (2016). https://doi.org/10.1007/s10815-016-0738-9

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    • DOI: https://doi.org/10.1007/s10815-016-0738-9

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