Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7915
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Type: Journal article
Title: Mutations in the gene for methylenetetrahydrofolate reductase, homocysteine levels, and vitamin status in women with a history of preeclampsia
Author: Lachmeijer, A.
Arngrimsson, R.
Bastiaans, E.
Pals, G.
ten Kate, L.
de Vries, J.
Kostense, P.
Aarnoudse, J.
Dekker, G.
Citation: American Journal of Obstetrics and Gynecology, 2001; 184(3):394-402
Publisher: Mosby Inc
Issue Date: 2001
ISSN: 0002-9378
1097-6868
Statement of
Responsibility: 
Augusta M.A. Lachmeijer, Reynir Arngrímsson, Esther J. Bastiaans, Gerard Pals, Leo P. ten Kate, Johanna I.P. de Vries, Pieter J. Kostense, Jan G. Aarnoudse, and Guustaaf A. Dekker
Abstract: OBJECTIVE: This study was undertaken to assess frequencies of the methylenetetrahydrofolate reductase gene mutations cytosine-to-thymine substitution at base 677 (C677T) and adenine-to-cytosine substitution at base 1298 (A1298C) and their interactions with homocysteine and vitamin levels among Dutch women with preeclampsia. STUDY DESIGN: Mutations were studied in the following 5 groups: 47 consecutive women with preeclampsia, 49 women with preeclampsia and with hyperhomocysteinemia, 36 women with preeclampsia but without hyperhomocysteinemia, 127 women with familial preeclampsia (typed for C677T mutations only), and 120 control subjects. Plasma levels of homocysteine, folate, and vitamin B12 were measured. RESULTS: Although 10.6% of the consecutive women with preeclampsia had strictly defined hyperhomocysteinemia (values >97.5th percentile), neither mutation was found in excess relative to the control group. Women with preeclampsia who had mild hyperhomocysteinemia (values >75th percentile) had a significant excess of the TT genotype (homozygosity for C677T mutation) relative to the women with preeclampsia who did not have hyperhomocysteinemia (odds ratio, 8.2; 95% confidence interval, 1.8-39). They also had significantly lower vitamin levels. CONCLUSION: Hyperhomocysteinemia in women with preeclampsia was associated with mutations in the gene for methylenetetrahydrofolate reductase, but the high frequency of hyperhomocysteinemia itself cannot be explained by these mutations alone.
Keywords: Humans; HELLP Syndrome; Pre-Eclampsia; Birth Weight; Vitamin B 12; Folic Acid; Deoxyribonucleases, Type II Site-Specific; Methylenetetrahydrofolate Reductase (NADPH2); Methionine; Homocysteine; DNA; DNA Primers; Radioimmunoassay; Electrophoresis, Polyacrylamide Gel; Linear Models; Regression Analysis; Polymerase Chain Reaction; Gestational Age; Pregnancy; Genotype; Mutation; Infant, Newborn; Oxidoreductases Acting on CH-NH Group Donors; Female
RMID: 0020010821
DOI: 10.1067/mob.2001.109393
Appears in Collections:Obstetrics and Gynaecology publications

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