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Mol. Hum. Reprod. Advance Access originally published online on October 27, 2006
Molecular Human Reproduction 2006 12(12):777-779; doi:10.1093/molehr/gal088
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

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

B. Peterlin1,3, B. Zorn2, M. Volk1 and T. Kunej1

1Division of Medical Genetics and 2Andrology Centre, Department of Obstetrics and Gynecology, University Medical Centre Ljubljana, Ljubljana, Slovenia

3 To whom correspondence should be addressed at: Division of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Centre Ljubljana, Ljubljana, Slovenia. E-mail: borut.peterlin{at}guest.arnes.si

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 ({chi}2 = 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 ({chi}2 = 7.011, P = 0.030). The presence of the D allele (DD or ID genotypes) conferred a 1.6 risk [{chi}2 = 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.

Key words: apolipoprotein B/azoospermia/male infertility/oligoasthenoteratozoospermia


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