title: Association between the apolipoprotein B signal peptide gene insertion/deletion polymorphism and male infertility.
abstract: In male mice heterozygous for a null apolipoprotein B (apoB), allele infertility was noticed. These data led us to investigate a possible role of APOB gene polymorphism and male infertility in humans. In this case-control study, we searched for an association between the insertion/deletion (I/D) polymorphism of the APOB gene and male infertility in 560 Slovene Caucasian men. The study group consisted of 310 infertile patients: 115 with azoospermia and 195 with oligoasthenoteratozoospermia (OAT) and a control group of 250 fertile men. We found a statistically significant difference in the genotype distribution between the two groups (chi2 = 6.315, P = 0.043). A separate analysis of azoospermic and OAT patients demonstrated that significant differences in genotype distribution were limited to the OAT group (chi2 = 7.011, P = 0.030). The presence of the D allele (DD or ID genotypes) conferred a 1.6 risk [chi2 = 6.089, P = 0.014, 95% confidence interval (95% CI) = 1.102-2.347] for male infertility in the OAT group of patients. We did not find a correlation between the I/D polymorphism genotypes and the clinical characteristics of infertile men: sperm concentration (P = 0.102), rapid progressive motility (P = 0.449), normal morphology (P = 0.085) and Johnsen score (P = 0.531). These data suggest that genetic variation in the signal peptide of the APOB gene (I/D polymorphism) might be a risk factor for the development of male infertility.
authors.affiliation: Division of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia. borut.peterlin@guest.arnes.si
authors.forename: B
authors.initials: B
authors.lastname: Peterlin
authors.forename: B
authors.initials: B
authors.lastname: Zorn
authors.forename: M
authors.initials: M
authors.lastname: Volk
authors.forename: T
authors.initials: T
authors.lastname: Kunej
mesh_terms: D000328:Adult; D001055:Apolipoproteins B / Q000235:genetics*; D053627:Asthenozoospermia / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D053713:Azoospermia / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D016022:Case-Control Studies; D005640:Follicle Stimulating Hormone / Q000097:blood; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D009845:Oligospermia / Q000453:epidemiology / Q000235:genetics*; D009929:Organ Size; D011110:Polymorphism, Genetic; D021382:Protein Sorting Signals / Q000235:genetics*; D017384:Sequence Deletion; D012708:Sertoli Cells / Q000473:pathology; D017524:Slovenia / Q000453:epidemiology; D013081:Sperm Motility; D013091:Spermatogenesis; D013737:Testis / Q000473:pathology
chemical_list: D001055:Apolipoproteins B; D021382:Protein Sorting Signals; D005640:Follicle Stimulating Hormone