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Polymorphisms in the protein C inhibitor gene in in vitro fertilization failure

Mona Bungum1, Aleksander Giwercman, Leif Bungum

  • 1Reproductive Medicine Centre, Malmö University Hospital, Malmö, Sweden. mona.bungum@med.lu.se

Fertility and Sterility
|September 22, 2009
PubMed

Insights

Genetic mutations in the protein C inhibitor gene may contribute to total fertilization failure in human IVF. A specific A/G base combination (rs2069990) was found more frequently in men experiencing this issue.

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Molecular Biology

Background:

  • Total fertilization failure (TFF) in human in vitro fertilization (IVF) presents a significant challenge in reproductive medicine.
  • The genetic underpinnings of TFF are not fully understood, necessitating further investigation into potential contributing factors.

Purpose of the Study:

  • To investigate the potential role of mutations in the protein C inhibitor (PCI) gene in the etiology of total fertilization failure in human IVF.
  • To determine if specific genetic variations within the PCI gene are more prevalent in men experiencing TFF compared to controls with normal fertilization.

Main Methods:

  • A cohort of 46 men with a history of IVF total fertilization failure and 51 control subjects with normal fertilization were recruited.
  • Direct sequencing was employed to screen the protein C inhibitor gene for mutations in all participants.
  • Genotyping focused on identifying specific base combinations, including the adenosine/guanine (A/G) variant at position 1389 (rs2069990) in exon 6.

Main Results:

  • A statistically significant difference in the frequency of a heterozygous adenosine/guanine (A/G) base combination at position 1389 (rs2069990) within the protein C inhibitor gene was observed.
  • This specific A/G variant (rs2069990) was found in 10.9% of men experiencing total fertilization failure, whereas it was absent (0%) in the control group.
  • The findings suggest a potential genetic association between this PCI gene variant and male factor infertility contributing to TFF.

Conclusions:

  • Alterations in the protein C inhibitor gene, specifically the heterozygous A/G base combination at position 1389 (rs2069990), may partially explain total fertilization failure in human IVF.
  • This genetic variant represents a potential biomarker for identifying men at higher risk of experiencing fertilization issues.
  • Further research is warranted to elucidate the functional impact of this mutation on fertilization processes.

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