title: An ADP-ribosyltransferase 3 (ART3) variant is associated with reduced sperm counts in Czech males: case/control association study replicating results from the Japanese population.
abstract: OBJECTIVE
  In about 50% of male infertility the underlying pathogenesis remains unknown. A recent Japanese study provided evidence that the rs6836703: G>A single-nucleotide polymorphism (SNP) from the ADP-ribosyltransferase 3 (ART3) gene is significantly associated with non-obstructive azoospermia. However, the functional significance of this association is unknown and replication studies in unrelated populations are thus necessary.
  
  
  METHODS
  In this study, 257 fertile Czech controls of proven paternity and 98 sub-/infertile patients selected according to stringent exclusion / inclusion criteria were genotyped by High Resolution Melting (HRM) of small amplicons.
  
  
  METHODS
  This study was performed at University Hospital Motol - Laboratory of reproductive genetics using routinely analyzed cases.
  
  
  RESULTS
  Significant differences in allele distribution between fertile and sub-/infertile men were found (OR=1.78, 95% CI: 1.17-2.70; p=0.007). Following sub-stratification of cases according to their sperm counts we found that observed differences in allele distributions were increased in oligozoospermic men with sperm counts of <15 million sperm/mL (OR=1.98, 95% CI: 1.28-3.07; p=0.002). This difference was also reflected in genotype distributions between fertile and sub-/infertile men (p=0.008), and fertile versus oligozoospermic men (p=0.004).
  
  
  CONCLUSIONS
  Our study serves as a first replication of the original Japanese report and opens new avenues of research. Compared to the Japanese patient cohort, we provided evidence that the analyzed ART3 variant is associated with quantitative impairment of spermatogenesis.
authors.affiliation: Department of Biology and Medical Genetics - Center for Reproductive Medicine and Genetics, Charles University 2nd Medical Faculty and University Hospital Motol, Prague, Czech Republic. macek.sekretariat@fnmotol.cz.
authors.forename: Patricia Alejandra
authors.initials: PA
authors.lastname: Norambuena
authors.forename: Jan
authors.initials: J
authors.lastname: Diblík
authors.forename: Petra
authors.initials: P
authors.lastname: Krenkova
authors.forename: Petra
authors.initials: P
authors.lastname: Paulasova
authors.forename: Milan
authors.initials: M
authors.lastname: Macek
authors.forename: Milan
authors.initials: M
authors.lastname: Macek
mesh_terms: D036002:ADP Ribose Transferases; D016022:Case-Control Studies; D005838:Genotype; D006801:Humans; D007248:Infertility, Male; D008297:Male; D013076:Sperm Count; D013094:Spermatozoa
chemical_list: D036002:ADP Ribose Transferases