Association between the apolipoprotein B signal peptide gene insertion/deletion polymorphism and male infertility

Mol Hum Reprod. 2006 Dec;12(12):777-9. doi: 10.1093/molehr/gal088. Epub 2006 Oct 27.

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.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Apolipoproteins B / genetics*
  • Asthenozoospermia / epidemiology
  • Asthenozoospermia / genetics*
  • Asthenozoospermia / pathology
  • Azoospermia / epidemiology
  • Azoospermia / genetics
  • Azoospermia / pathology
  • Case-Control Studies
  • Follicle Stimulating Hormone / blood
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Mutagenesis, Insertional*
  • Oligospermia / epidemiology
  • Oligospermia / genetics*
  • Organ Size
  • Polymorphism, Genetic
  • Protein Sorting Signals / genetics*
  • Sequence Deletion*
  • Sertoli Cells / pathology
  • Slovenia / epidemiology
  • Sperm Motility
  • Spermatogenesis
  • Testis / pathology

Substances

  • Apolipoproteins B
  • Protein Sorting Signals
  • Follicle Stimulating Hormone