Assessment of M2/ANXA5 haplotype as a risk factor in couples with placenta-mediated pregnancy complications

J Assist Reprod Genet. 2018 Jan;35(1):157-163. doi: 10.1007/s10815-017-1041-0. Epub 2017 Sep 13.

Abstract

Purpose: The aim of this study was to confirm the associated M2/ANXA5 carrier risk in women with placenta-mediated pregnancy complications (PMPC) and to test their male partners for such association. Further analysis evaluated the influence of maternal vs. paternal M2 alleles on miscarriage.

Methods: Two hundred eighty-eight couples with preeclampsia (PE), intrauterine growth restriction (IUGR), or premature birth (PB) were recruited (n = 96 of each phenotype). The prevalence of the M2 haplotype was compared to two control cohorts. They included a group of women with a history of normal pregnancy without gestational pathology (Munich controls, n = 94) and a random population sample (PopGen controls, n = 533).

Results: Significant association of M2 haplotype and pregnancy complications was confirmed for women and for couples, where prevalence was elevated from 15.4 to 23.8% (p < 0.001). Post hoc analyses demonstrated an association for IUGR and PB individually. A strong link between previous miscarriages and M2 carrier status was identified which may explain the predisposition to placental pregnancy complication. M2/ANXA5 appears to be a risk factor for adverse pregnancy outcomes related, but not limited to miscarriages, with similar prevalence in women and their male partners.

Conclusion: These findings support the proposed physiological function of ANXA5 as an embryonic anticoagulant that appears deficient in contiguous specter of thrombophilia-related pregnancy complications culminating more frequently in miscarriage in a maternal M2 carrier background.

Keywords: Annexin A5; M2/ANXA5; Miscarriage; Placenta-mediated pregnancy complications; Pregnancy.

MeSH terms

  • Adult
  • Annexin A5 / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Haplotypes*
  • Heterozygote
  • Humans
  • Male
  • Placenta / pathology*
  • Placenta Diseases / genetics*
  • Pregnancy
  • Pregnancy Complications / genetics*
  • Pregnancy Complications / pathology
  • Pregnancy Outcome
  • Risk Factors

Substances

  • Annexin A5