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PMID 26361204
Gene Name FBXL19
Condition Male infertility, Embryo quality
Association Associated
Population size 181
Population details 181 (127 men undergoing IVF treatment, 54 normozoospermic, fertile men)
Sex Male
Infertility type Male infertility
Associated genes Microarray


Aberrant sperm DNA methylation predicts male fertility status and embryo quality

Aston KI, Uren PJ, Jenkins TG, Horsager A, Cairns BR, Smith AD, Carrell DT.

OBJECTIVE: To evaluate whether male fertility status and/or embryo quality during in vitro fertilization (IVF) therapy can be predicted based on genomewide sperm deoxyribonucleic acid (DNA) methylation patterns. DESIGN: Retrospective cohort study. SETTING: University-based fertility center. PATIENT(S): Participants were 127 men undergoing IVF treatment (where any major female factor cause of infertility had been ruled out), and 54 normozoospermic, fertile men. The IVF patients were stratified into 2 groups: patients who had generally good embryogenesis and a positive pregnancy (n = 55), and patients with generally poor embryogenesis (n = 72; 42 positive and 30 negative pregnancies) after IVF. INTERVENTION(S): Genomewide sperm DNA methylation analysis was performed to measure methylation at >485,000 sites across the genome. MAIN OUTCOME MEASURE(S): A comparison was made of DNA methylation patterns of IVF patients vs. normozoospermic, fertile men. RESULT(S): Predictive models proved to be highly accurate in classifying male fertility status (fertile or infertile), with 82% sensitivity, and 99% positive predictive value. Hierarchic clustering identified clusters enriched for IVF patient samples and for poor-quality-embryo samples. Models built to identify samples within these groups, from neat samples, achieved positive predictive value ≥ 94% while identifying >one fifth of all IVF patient and poor-quality-embryo samples in each case. Using density gradient prepared samples, the same approach recovered 46% of poor-quality-embryo samples with no false positives. CONCLUSION(S): Sperm DNA methylation patterns differ significantly and consistently for infertile vs. fertile, normozoospermic men. In addition, DNA methylation patterns may be predictive of embryo quality during IVF. CI - Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. FAU - Aston, Kenneth I AU - Aston KI AD - Department of Surgery, University of Utah Andrology and IVF Laboratories, University of Utah School of Medicine, Salt Lake City, Utah. FAU - Uren, Philip J AU - Uren PJ AD - Molecular and Computational Biology, University of Southern California, Los Angeles, California. FAU - Jenkins, Timothy G AU - Jenkins TG AD - Department of Surgery, University of Utah Andrology and IVF Laboratories, University of Utah School of Medicine, Salt Lake City, Utah. FAU - Horsager, Alan AU - Horsager A AD - Episona, Inc, Glendale, California. FAU - Cairns, Bradley R AU - Cairns BR AD - Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah; Howard Hughes Medical Institute, Chevy Chase, Maryland. FAU - Smith, Andrew D AU - Smith AD AD - Molecular and Computational Biology, University of Southern California, Los Angeles, California.