Skip to main content
SpringerLink
Log in

An association study of SPO11 gene single nucleotide polymorphisms with idiopathic male infertility in Chinese Han population

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

Abstract

Purpose

To investigate the incidence of single nucleotide polymorphisms in SPO11 and its influence in idiopathic male infertility in China.

Methods

Infertility factors such as anatomical, immunological and infectious disorders were examined in selecting patients with idiopathic male infertility. Routine semen analysis was performed. DNA was isolated from peripheral blood of the selected patients and control group, and five SNP loci of SPO11 were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Furthermore, nucleotide sequences were sequenced.

Results

SNP5 (rs28368082) in the exon7 of SPO11 was identified to be associated with idiopathic male infertility (P = 0.037 for differences across genotypes). A transversion (C5679T) was detected in eight patients (11.0%), which led arginine change into tryptophan. And this variant was not found in the remaining patients and controls.

Conclusion

A SPO11 SNP was associated with idiopathic male reproduction, suggested that SPO11 might has an effect on premorbid functioning, which increase susceptibility for idiopathic male reproduction. Further research on this issue is still necessary.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others

References

  1. Irvine DS. Epidemiology and aetiology of male infertility. Hum Reprod. 1998;13 Suppl 1:33–44.

    PubMed  Google Scholar 

  2. Zhang J, Qiu SD, Li SB, Zhou DX, Tian H, Huo YW, et al. Novel mutations in ubiquitin-specific protease 26 gene might cause spermatogenesis impairment and male infertility. Asian J Androl. 2007;9:809–14.

    Article  PubMed  CAS  Google Scholar 

  3. O’Flynn O’Brien KL, Varghese AC, Agarwal A. The genetic causes of male factor infertility: a review. Fertil Steril. 2010;93:1–12.

    Article  PubMed  Google Scholar 

  4. Ferlin A, Raicu F, Gatta V, Zuccarello D, Palka G, Foresta C. Male infertility: role of genetic background. Reprod Biomed Online. 2007;14:734–45.

    Article  PubMed  CAS  Google Scholar 

  5. Tamburino L, Guglielmino A, Venti E, Chamayou S. Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility. Reprod Biomed Online. 2008;17:27–35.

    Article  PubMed  CAS  Google Scholar 

  6. Zhoucun A, Zhang S, Yang Y, Ma Y, Zhang W, Lin L. The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia. Eur J Obstet Gynecol Reprod Biol. 2006;124:61–4.

    Article  PubMed  CAS  Google Scholar 

  7. Vinci G, Brauner R, Tar A, Rouba H, Sheth J, Sheth F, et al. Mutationsin the TSPYL1 gene associated with 46, XY disorder of sex development and male infertility. Fertil Steril. 2009;92:1347–50.

    Article  PubMed  CAS  Google Scholar 

  8. Wilson GR, Sim ML, Brody KM, Taylor JM, McLachlan RI, O’Bryan MK, et al. Molecular analysis of the PArkin co-regulated gene and association with male infertility. Fertil Steril. 2010;93:2262–8.

    Article  PubMed  CAS  Google Scholar 

  9. Romanienko PJ, Camerini-Otero RD. The mouse Spo11 gene is required for meiotic chromosome synapsis. Mol Cell. 2000;6:975–87.

    Article  PubMed  CAS  Google Scholar 

  10. Neale MJ, Ramachandran M, Trelles-Sticken E, Scherthan H, Goldman AS. Wild-type levels of Spo11-induced DSBs are required for normal single-strand resection during meiosis. Mol Cell. 2002;9:835–46.

    Article  PubMed  CAS  Google Scholar 

  11. Stacey NJ, Kuromori T, Azumi Y, Roberts G, Breuer C, Wada T, et al. Arabidopsis SPO11-2 functions with SPO11-1 in meiotic recombination. Plant J. 2006;48:206–16.

    Article  PubMed  CAS  Google Scholar 

  12. Nogues C, Fernandez C, Rajmil O, Templado C. Baseline expression profile of meiotic-specific genes in healthy fertile males. Fertil Steril. 2009;92:578–82.

    Article  PubMed  CAS  Google Scholar 

  13. Liu Y, Wu C, Lyu Q, Yang D, Albertini DF, Keefe DL, et al. Germline stem cells and neo-oogenesis in the adult human ovary. Dev Biol. 2007;306:112–20.

    Article  PubMed  CAS  Google Scholar 

  14. Romanienko PJ, Camerini-Otero RD. Cloning, characterization, and localization of mouse and human SPO11. Genomics. 1999;61:156–69.

    Article  PubMed  CAS  Google Scholar 

  15. Carrell DT, De Jonge C, Lamb DJ. The genetics of male infertility: a field of study whose time is now. Arch Androl. 2006;52:269–74.

    Article  PubMed  CAS  Google Scholar 

  16. Christensen GL, Ivanov IP, Atkins JF, Mielnik A, Schlegel PN, Carrell DT. Screening the SPO11 and EIF5A2 genes in a population of infertile men. Fertil Steril. 2005;84:758–60.

    Article  PubMed  CAS  Google Scholar 

  17. Yang Y, Xiao C, Zhang S, Zhoucun A, Li X. Preliminary study of the relationship between DAZ gene copy deletions and spermatogenic impairment in Chinese men. Fertil Steril. 2006;85:1061–3.

    Article  PubMed  CAS  Google Scholar 

  18. Hargreave TB. Genetic basis of male fertility. Br Med Bull. 2000;56:650–71.

    Article  PubMed  CAS  Google Scholar 

  19. Nishimune Y, Tanaka H. Infertility caused by polymorphisms or mutations in spermatogenesis-specific genes. J Androl. 2006;27:326–34.

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgment

We would like to thank the experimental center of postgraduate of Xi’an Jiaotong University and Reproductive Medical Center of Xi’an Jiaotong University. We especially thank Dr Jiang-Hua Lai for practical support.

Financial support

This study was supported by grants from the National Natural Science Fund of China (30700654), Shaanxi Sci-Technical Development Project (2005K15-G2) and the Graduate Innovation Fund of Xian Jiaotong University (2010PG001).

Author information

Authors and Affiliations

  1. Department of Pathology, Medical School, Xi’an Jiaotong University, Xi’an, 710061, China

    Jing Zhang & Dang-xia Zhou

  2. Reproductive Medical Center, Xi’an Jiaotong University, Xi’an, 710061, China

    Hai-xu Wang

  3. Department of Forensic Science, Medical School, Xi’an Jiaotong University, Xi’an, 710061, China

    Zhao Tian

  4. Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education, Xi’ an, 710061, China

    Dang-xia Zhou

Authors
  1. Jing Zhang
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Dang-xia Zhou
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Hai-xu Wang
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Zhao Tian
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Dang-xia Zhou.

Additional information

Capsule In this study, we performed a case–control study using SNPs to examine the association of SPO11 with idiopathic male infertility and detected a SNP that was significantly over-represented in the cases compared with the controls in Chinese Han population.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Zhang, J., Zhou, Dx., Wang, Hx. et al. An association study of SPO11 gene single nucleotide polymorphisms with idiopathic male infertility in Chinese Han population. J Assist Reprod Genet 28, 731–736 (2011). https://doi.org/10.1007/s10815-011-9571-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-011-9571-3

Keywords

Search

Navigation