Methylenetetrahydrofolate reductase C677T polymorphism and pregnancy complications.
OBJECTIVE
To investigate the frequency of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in women with intrauterine fetal death, preeclampsia, preterm delivery, and small for gestational age (SGA) infants.


METHODS
In a prospective cohort study, DNA from 2,000 pregnant women were analyzed for MTHFR C677T by DNA microarray (wild-type allele, C; mutant allele, T).


RESULTS
One thousand six hundred seventy-five women completed the study. Of these, 16.6% (278 women with 556 genetic alleles) developed at least one pregnancy complication and were designated study cases. There were 1,397 women (with 2,794 genetic alleles) who served as controls. MTHFR C677T allele frequencies were significantly different between cases and controls (C [wild-type]: 346 of 556 [62%]; T [mutant]: 210 of 556 [38%] compared with C: 1,911 of 2,794 [68%]; T: 883 of 2,794 [32%]; P=.005; odds ratio [OR] 1.23, 95% confidence interval [CI] 1.06-1.42). Genotype distributions were also different between cases and controls (C/T+T/T [abnormal]: 174 of 278 [63%]; C/C [normal]: 104 of 278 [37%] compared with C/T+T/T: 728 of 1,397 [52%]; C/C 669 of 1,397 [48%]; P=.002; OR 1.54, 95% CI 1.18-2.02). The clinical effect of the MTHFR C677T polymorphism was restricted to women with SGA infants (P=.05; OR 1.33, 95% CI 1.00-1.77). No significant differences in genotype distributions were observed among women with intrauterine fetal death, preeclampsia, and preterm delivery.


CONCLUSIONS
MTHFR C677T is a genetic marker for identifying women at increased risk of SGA infants.


METHODS
II.
Department of Obstetrics and Gynecology, Ludwig Boltzmann Institute of Clinical Obstetrics and Gynecology, Danube Hospital/SMZ-Ost, Vienna, Austria.
Felix
F
Stonek
Erich
E
Hafner
Karl
K
Philipp
Lukas A
LA
Hefler
Eva-Katrin
EK
Bentz
Clemens B
CB
Tempfer
D000328:Adult; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics*; D011446:Prospective Studies; D012307:Risk Factors; D044465:White People
D042965:Methylenetetrahydrofolate Reductase (NADPH2)