Introduction: A limited number of studies aimed at investigating the possible association of Y-chromosome haplogroups with microdeletions of the azoospermia factors (AZF) or with particular infertile phenotypes, but definitive conclusions have not been attained. The main confounding elements in these association studies are the small sample sizes and the lack of homogeneity in the geographical origin of studied populations, affecting, respectively, the statistical power and the haplogroup distribution.
Materials and Methods: In order to assess whether some Y chromosome haplogroups are predisposing to, or protecting against, AZFc (b2/b4) deletions, we have characterized for 8 Y chromosome haplogroups 31 North-Italian patients carrying the AZFc b2/b4 microdeletion, and compared them with the haplogroup frequency showed by a non-microdeleted North Italian population (n=93).
Results and Discussion: We observed a statistically significant difference between the two populations, patients with microdeletions showing an higher frequency of the E haplogroup (29.3% vs 9.7%, P<0.01). The geographical homogeneity of the microdeleted samples and of the control population, controlled at microgeographical level, allows us to exclude that geographical structure of the Y genetic variability have affected our results.
Conclusion: We thus conclude that in the North Italian population Y chromosome background affects AZFc b2/b4 deletion occurrence.
- AZF microdeletions
- Y haplogroups
- male infertility
- predisposing haplogroups
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