Thrombin-activatable fibrinolysis inhibitor polymorphisms and recurrent pregnancy loss

Fertil Steril. 2009 Aug;92(2):694-702. doi: 10.1016/j.fertnstert.2008.07.015. Epub 2008 Sep 6.

Abstract

Objective: To investigate the possible association between selected thrombin-activatable fibrinolysis inhibitor (TAFI) single nucleotide polymorphisms (SNPs) and recurrent pregnancy loss (RPL).

Design: Case-control study.

Setting: University hospital.

Patient(s): One hundred fifty-eight women (86 cases and 72 controls).

Intervention(s): Determination of TAFI SNPs -438A/G, +505A/G, +1040T/C, +1542C/G, and +1583A/T by polymerase chain reaction (PCR) reactions and sequencing analysis performed on peripheral blood samples.

Main outcome measure(s): Analysis of the genotype and allele frequencies of TAFI SNPs -438A/G, +505A/G, +1040T/C, +1542C/G, and +1583A/T in women with and without RPL.

Result(s): Genotype and allele frequencies of TAFI +505 and +1583 SNPs were significantly different in women with RPL compared with control women. The frequencies of the +505A/A and +505G/G genotypes were 1.2% and 61.6% in women with RPL and 13.9% and 43.1% in control women, respectively. The frequencies of the +1583A/A and +1583T/T genotypes were 1.2% and 61.6% in women with RPL and 13.9% and 45.8% in control women, respectively. The genotype and allele frequencies at TAFI position -438, +1040, and +1542 were not significantly different between RPL and control women.

Conclusion(s): The SNPs leading to increased TAFI levels are associated with a reduced risk of RPL. It is possible that TAFI is involved in RPL.

MeSH terms

  • Abortion, Habitual / epidemiology*
  • Adult
  • Carboxypeptidase B2 / genetics*
  • Case-Control Studies
  • Female
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Incidence
  • Italy / epidemiology
  • Polymorphism, Single Nucleotide / genetics*
  • Recurrence
  • Risk Assessment
  • Risk Factors
  • Young Adult

Substances

  • Carboxypeptidase B2