Ethnic differences in the association of factor V Leiden mutation and the C677T methylenetetrahydrofolate reductase gene polymorphism with preeclampsia

Damar Prasmusinto, Snezana Skrablin, Rolf Fimmers, Katrin Van Der Ven

Research output: Contribution to journalArticlepeer-review

25 Citations (Scopus)

Abstract

Objective: This case-control study evaluates the association of the factor V Leiden mutation with preeclampsia and potential synergistic effects of the MTHFR-677T and factor V Leiden mutations with regard to disease risk in two different ethnic populations. Study design: 198 women and their 143 newborns from Germany/Croatia and Indonesia with normal pregnancy or preeclampsia participated in the study. The factor V Leiden mutation was determined by direct sequencing and the MTHFR genotype by a PCR-based RFLP method. Results: The factor V Leiden mutation is rare in Indonesians. In Germans/Croatians, the frequency of the mutation was significantly increased in mothers with preeclampsia compared to controls. No disease association was found for combined factor V Leiden/MTHFR-677T genotypes on the maternal and fetal level. Conclusions: Our results underline the need for a clear distinction of ethnicity in association studies of functional gene polymorphisms. They further support the concept of preeclampsia as a complex disease with variable contributions of disease genes in different ethnic groups.

Original languageEnglish
Pages (from-to)162-169
Number of pages8
JournalEuropean Journal of Obstetrics Gynecology and Reproductive Biology
Volume112
Issue number2
DOIs
Publication statusPublished - 10 Feb 2004

Keywords

  • Factor V Leiden mutation
  • German/Croatian
  • Indonesian
  • MTHFR C677T
  • Preeclampsia

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