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Variants in DPF3 and DSCAML1 are associated with sperm morphology

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

Abstract

Purpose

Abnormalities in semen parameters are often associated with reduced fertility in males, and may, in part, be attributed to genetic variation. Aim of this study is to determine if genetic variants that were previously shown to be predictors of family size and birth rate in healthy men are also associated with sperm morphology in men recruited from an infertility laboratory.

Methods

Genetic associations with sperm morphology phenotypes in 126 ethnically diverse men from Chicago at 41 independent loci, previously shown to be predictors of family size and birth rate in healthy men, were tested.

Results

Two intronic SNPs, rs680730 (in DSCAML1) and rs10129954 (in DPF3), were associated with the percent of normal sperm morphology in Chicago men (P = 0.017 and 0.023, respectively). Furthermore, both loci were associated with increased occurrence of sperm head defects.

Conclusions

SNPs in two genes, both of which have roles in nervous system development, were associated with poor sperm morphology. These results may be helpful in identification of other novel genes and biological pathways whose proper functioning is crucial for sperm production and male reproductive processes.

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Acknowledgments

We would like to thank Dr. Rachel A. Myers for statistical consultation; Mathis Morrison and William Birch for technical assistance with semen analysis; and Mary Coppolillo for subject coordination at the UIC andrology clinic. This work is supported by National Institutes of Health (NIH) grant HD21244.

Author information

Author notes

  1. Gülüm Kosova

    Present address: Department of Obstetrics and Gynecology, University of Chicago, Chicago, IL, 60637, USA

  2. James M. Hotaling

    Present address: Department of Surgery (Urology), Center for Reconstructive Urology and Mens Health, Salt Lake City, UT, 84103, USA

Authors and Affiliations

  1. Department of Human Genetics, University of Chicago, Chicago, IL, 60637, USA

    Gülüm Kosova & Carole Ober

  2. Department of Urology, University of Illinois at Chicago, Chicago, IL, 60612, USA

    Samuel Ohlander, Craig Niederberger & Gail S. Prins

  3. Department of Obstetrics and Gynecology, University of Chicago, Chicago, IL, 60637, USA

    Carole Ober

Authors
  1. Gülüm Kosova
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  2. James M. Hotaling
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  3. Samuel Ohlander
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  4. Craig Niederberger
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  5. Gail S. Prins
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  6. Carole Ober
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Corresponding authors

Correspondence to James M. Hotaling or Carole Ober.

Additional information

Capsule SNPs from two genes were found to be associated with abnormal sperm morphology.

Gülüm Kosova and James M. Hotaling would like to be considered similar in author order.

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Kosova, G., Hotaling, J.M., Ohlander, S. et al. Variants in DPF3 and DSCAML1 are associated with sperm morphology. J Assist Reprod Genet 31, 131–137 (2014). https://doi.org/10.1007/s10815-013-0140-9

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  • DOI: https://doi.org/10.1007/s10815-013-0140-9

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