title: No association found between gr/gr deletions and infertility in Brazilian males.
abstract: The Y chromosome carries several spermatogenesis genes distributed in three regions: AZFa, AZFb and AZFc. Microdeletions in these regions have been seen in 10% of sterile males with azoospermia or oligozoospermia, the most frequent of them being characterized by a complete deletion of AZFc region. A partial AZFc deletion named gr/gr has been singled out as a risk factor for spermatogenic failure. However, other authors have diagnosed it as a polymorphic deletion with no clinical relevance. We decided to investigate the association of gr/gr deletion and infertility in Brazilian males. We analysed 350 individuals (110 azoospermic, 122 fertile and 118 presumably fertile) and observed 12 g/gr deletions: five in infertile men (4.5%), three among fertile males (2.5%) and four in probably fertile individuals (3.4%). These differences were not statistically significant. Then, we decided to ascertain whether the clinical impact of the gr/gr deletion was associated with the type of Y chromosome. We have identified Y-chromosome haplogroups using 22 unique event polymorphisms (UEPs). Among the individuals with the gr/gr deletion, we found haplogroups R, K*, F*, E1, E3b2 and E3b*, all of which are common in white Brazilian males, and none revealed a particular association with infertility. Taken together, these results show no evidence of association between the occurrence of gr/gr deletion and male infertility.
authors.affiliation: Departamento de Bioquímica e Imunologia, Belo Horizonte, Minas Gerais, Brazil.
authors.forename: Cláudia M B
authors.initials: CM
authors.lastname: Carvalho
authors.forename: Luciana W
authors.initials: LW
authors.lastname: Zuccherato
authors.forename: Luciana
authors.initials: L
authors.lastname: Bastos-Rodrigues
authors.forename: Fabrício R
authors.initials: FR
authors.lastname: Santos
authors.forename: Sérgio D J
authors.initials: SD
authors.lastname: Pena
mesh_terms: D001938:Brazil; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D004252:DNA Mutational Analysis; D056426:Genetic Loci; D005828:Genetics, Population; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D029589:Seminal Plasma Proteins / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics*; D013091:Spermatogenesis / Q000235:genetics
chemical_list: D029589:Seminal Plasma Proteins