Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population.
BACKGROUND
A limited number of studies aimed at investigating the possible association of Y-chromosome haplogroups with microdeletions of the azoospermia factors (AZFs) 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.


METHODS
To assess whether some Y-chromosome haplogroups are predisposing to, or protecting against, azoospermia factor c (AZFc; b2/b4) deletions, 31 north Italian patients carrying the AZFc b2/b4 microdeletion were characterised for 8 Y-chromosome haplogroups, and compared with the haplogroup frequency shown by a north Italian population without the microdeletion (n = 93).


CONCLUSIONS
A significant difference was observed between the two populations, patients with microdeletions showing a 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 the possibility that the geographical structure of the Y genetic variability has affected our results to be excluded.


CONCLUSIONS
Thus, it is concluded that in the north Italian population Y-chromosome background affects the occurrence of AZFc b2/b4 deletions.
Arredi
Barbara
B
Department of Histology, Microbiology and Medical Biotechnologies, Centre for Male Gamete Cryopreservation, University of Padova, Padova, Italy.
Ferlin
Alberto
A
Speltra
Elena
E
Bedin
Chiara
C
Zuccarello
Daniela
D
Ganz
Francesco
F
Marchina
Eleonora
E
Stuppia
Liborio
L
Krausz
Csilla
C
Foresta
Carlo
C
D000328:Adult; D053713:Azoospermia / Q000208:ethnology / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D020641:Polymorphism, Single Nucleotide; D029589:Seminal Plasma Proteins / Q000235:genetics*; D017384:Sequence Deletion
D005819:Genetic Markers; D029589:Seminal Plasma Proteins