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.
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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