title: Impaired spermatogenesis and gr/gr deletions related to Y chromosome haplogroups in Korean men.
abstract: Microdeletion of the Azoospermia Factor (AZF) regions in Y chromosome is a well-known genetic cause of male infertility resulting from spermatogenetic impairment. However, the partial deletions of AZFc region related to spermatogenetic impairment are controversial. In this study, we characterized partial deletion of AZFc region in Korean patients with spermatogenetic impairment and assessed whether the DAZ and CDY1 contributes to the phenotype in patients with gr/gr deletions. Total of 377 patients with azoo-/oligozoospermia and 217 controls were analyzed using multiplex polymerase chain reaction (PCR), analysis of DAZ-CDY1 sequence family variants (SFVs), and quantitative fluorescent (QF)-PCR. Of the 377 men with impaired spermatogenesis, 59 cases (15.6%) had partial AZFc deletions, including 32 gr/gr (8.5%), 22 b2/b3 (5.8%), four b1/b3 (1.1%) and one b3/b4 (0.3%) deletion. In comparison, 14 of 217 normozoospermic controls (6.5%) had partial AZFc deletions, including five gr/gr (2.3%) and nine b2/b3 (4.1%) deletions. The frequency of gr/gr deletions was significantly higher in the azoo-/oligozoospermic group than in the normozoospermic control group (p = 0.003; OR = 3.933; 95% CI = 1.509-10.250). Concerning Y haplogroup, we observed no significant differences in the frequency of gr/gr deletions between the case and the control groups in the YAP+ lineages, while gr/gr deletion were significantly higher in azoo-/oligozoospermia than normozoospermia in the YAP- lineage (p = 0.004; OR = 6.341; 95% CI = 1.472-27.312). Our data suggested that gr/gr deletion is associated with impaired spermatogenesis in Koreans with YAP- lineage, regardless of the gr/gr subtypes.
authors.affiliation: Genetics Laboratory, CHA Gangnam Medical Center, Seoul, South Korea.
authors.forename: Jin
authors.initials: J
authors.lastname: Choi
authors.forename: Seung-Hun
authors.initials: SH
authors.lastname: Song
authors.forename: Chong Won
authors.initials: CW
authors.lastname: Bak
authors.forename: Se Ra
authors.initials: SR
authors.lastname: Sung
authors.forename: Tae Ki
authors.initials: TK
authors.lastname: Yoon
authors.forename: Dong Ryul
authors.initials: DR
authors.lastname: Lee
authors.forename: Sung Han
authors.initials: SH
authors.lastname: Shim
mesh_terms: D044466:Asian People / Q000235:genetics*; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D000075364:Deleted in Azoospermia 1 Protein; D018628:Gene Dosage / Q000235:genetics; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007723:Korea; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics; D013091:Spermatogenesis / Q000235:genetics*
chemical_list: C118459:CDY1 protein, human; C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D009687:Nuclear Proteins; D016601:RNA-Binding Proteins