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

B Peterlin1, B Zorn, M Volk

  • 1Division of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia. borut.peterlin@guest.arnes.si

Molecular Human Reproduction
|October 31, 2006
PubMed

Insights

Genetic variations in the apolipoprotein B (APOB) gene

Area of Science:

  • Human Genetics
  • Reproductive Biology
  • Molecular Biology

Background:

  • Apolipoprotein B (ApoB) plays a crucial role in lipid metabolism.
  • Previous studies in mice suggested a link between ApoB deficiency and male infertility.
  • APOB gene polymorphisms may influence male reproductive health in humans.

Purpose of the Study:

  • To investigate the association between the APOB gene insertion/deletion (I/D) polymorphism and male infertility in Slovene Caucasian men.
  • To determine if specific APOB genotypes are risk factors for different types of male infertility.
  • To explore correlations between APOB genotypes and clinical characteristics of infertile men.

Main Methods:

  • Case-control study involving 560 Slovene Caucasian men.
  • Study group: 310 infertile men (115 azoospermia, 195 oligoasthenoteratozoospermia - OAT).
  • Control group: 250 fertile men.
  • Genotyping for APOB I/D polymorphism using PCR.
  • Statistical analysis including chi-squared tests and risk assessment.

Main Results:

  • A significant difference in APOB I/D genotype distribution was observed between infertile and fertile men (P=0.043).
  • This difference was primarily driven by the oligoasthenoteratozoospermia (OAT) group (P=0.030).
  • Carriage of the D allele (DD or ID genotypes) increased the risk of male infertility in the OAT group by 1.6-fold (P=0.014).
  • No significant correlation was found between APOB I/D genotypes and sperm concentration, motility, morphology, or Johnsen score.

Conclusions:

  • The insertion/deletion (I/D) polymorphism in the signal peptide of the APOB gene is associated with male infertility, particularly OAT.
  • APOB gene variation may represent a genetic risk factor for the development of male infertility.
  • Further research is warranted to elucidate the precise mechanisms linking APOB polymorphism to male reproductive dysfunction.

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