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


METHODS
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.
Prasmusinto
Damar
D
Department of Obstetrics and Gynecology, Section of Endocrinology and Reproductive Medicine, University of Bonn, Sigmund Freudstrasse 25, 53127 Bonn, Germany.
Skrablin
Snezana
S
Fimmers
Rolf
R
van der Ven
Katrin
K
D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D016001:Confidence Intervals; D005006:Ethnicity / Q000235:genetics*; D005165:Factor V / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000208:ethnology*; D006801:Humans; D007231:Infant, Newborn; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D016017:Odds Ratio; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011225:Pre-Eclampsia / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D011247:Pregnancy; D011336:Probability; D012016:Reference Values; D012680:Sensitivity and Specificity; D044465:White People / Q000235:genetics
D005819:Genetic Markers; C095381:factor V Leiden; D005165:Factor V; D042965:Methylenetetrahydrofolate Reductase (NADPH2)