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Journal of Assisted Reproduction and Genetics

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01-08-2011 | Genetics

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

Authors: Jing Zhang, Dang-xia Zhou, Hai-xu Wang, Zhao Tian

Published in: Journal of Assisted Reproduction and Genetics | Issue 8/2011

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.

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

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.PubMedCrossRef

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

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

14.

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

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

18.

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

19.

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

Title: An association study of SPO11 gene single nucleotide polymorphisms with idiopathic male infertility in Chinese Han population
Authors: Jing Zhang
Dang-xia Zhou
Hai-xu Wang
Zhao Tian
Publication date: 01-08-2011
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 8/2011
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-011-9571-3

At a glance: The STEP trials

Springer Medicine

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

Abstract

Purpose

Methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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