Hum. Reprod. Advance Access originally published online on January 4, 2007
Human Reproduction 2007 22(4):1107-1113; doi:10.1093/humrep/del499
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A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Han-Chinese population
1 The Key Laboratory of Reproductive Medicine of Jiangsu Province, Institute of Toxicology 2 Department of Epidemiology and Biostatistics, Nanjing Medical University School of Public Health, Nanjing, China 3 Department of Urology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China
4 To whom correspondence should be addressed at: The Key Laboratory of Reproductive Medicine of Jiangsu Province, Institute of Toxicology, Nanjing Medical University School of Public Health, Nanjing 210029, China. E-mail: xrwang{at}njmu.edu.cn
BACKGROUND: Azoospermia factor c (AZFc) subdeletions were reported to be significant risk factors for spermatogenesis. In this study, we assessed the occurrence of classical AZF deletions and AZFc subdeletions and their impact on male infertility in a Han-Chinese population.
METHODS: This study analysed a population of 699 subjects, including 451 idiopathic infertile patients with a range of fertility disorders and 248 fertile controls, using a retrospective design. Deletions were identified by multiplex PCR.
RESULTS: The prevalence and phenotypes of the classical AZF deletions were similar to previous studies. Subdeletions of the AZFc region in patients showed similar overall frequencies in all sperm concentration categories of gr/gr (7.0%) and b2/b3 (8.9%). For controls, these subdeletions were also found with a prevalence of gr/gr (7.7%) and b2/b3 (3.2%). b1/b3 deletions were not found either in the patients or in the controls.
CONCLUSION: Our data showed a higher frequency of deletion events in this Han-Chinese population than in populations elsewhere in the world. The classical AZF deletions were the primary genetic factors for spermatogenic failure, while no significant association was found for AZFc subdeletions with sperm concentration. However, the b2/b3 subdeletion was significantly associated with idiopathic male infertility (odds ratio, 2.93; 95% confidence interval 1.34–6.39) (P = 0.005), indicating a potential impairment of male fertility.
Key words: AZFc/b2/b3 subdeletion/gr/gr subdeletion/male infertility/Y chromosome microdeletion
Submitted on September 1, 2006; resubmitted on October 25, 2006; resubmitted on November 27, 2006; accepted on December 5, 2006.
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