Combined heterozygosity for methylenetetrahydrofolate reductase (MTHFR) mutations C677T and A1298C is associated with abruptio placentae but not with intrauterine growth restriction

Gebhardt, Stefan; Scholtz, Charlotte L.; Hillermann, Renate; Odendaal, Hein J.

doi:10.1016/s0301-2115(00)00540-6

Cited by 34 publications

(15 citation statements)

References 17 publications

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“…Zetterberg et al 46 observed a very high frequency of MTHFR 677C ⁄ T and 1298A ⁄ C alleles in the RPL group. 46 Gebhardt et al 18 study confirmed that combined heterozygosity for MTHFR mutations 677C ⁄ T and 1298A ⁄ C may represent a genetic marker for placental abruption. 46 Gebhardt et al 18 study confirmed that combined heterozygosity for MTHFR mutations 677C ⁄ T and 1298A ⁄ C may represent a genetic marker for placental abruption.…”

Section: Discussionmentioning

confidence: 91%

“…6 Thrombophilia has been postulated as a cause of RPL. 18 Deficiency in fibrin stabilization and fibrinolysis are the risk factors for thrombosis associated with RPL. This state increases the risk of thrombophilia that can be sustained by some genetic factors such as polymorphisms that affect the coagulation system and folate metabolism pathway.…”

Section: Introductionmentioning

confidence: 99%

“…13 Although most studies show the association of these two polymorphisms with RPL, [14][15][16][17] their simultaneous presence in women with RPL history has not been fully investigated. 18 Deficiency in fibrin stabilization and fibrinolysis are the risk factors for thrombosis associated with RPL. One of the most important polymorphisms related with these deficiencies is plasminogen activator inhibitor-1 (PAI-1) )675 4G ⁄ 5G, which results in unbalanced fibrin deposition.…”

Section: Introductionmentioning

confidence: 99%

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Analysis of Plasminogen Activator Inhibitor‐1, Integrin Beta3, Beta Fibrinogen, and Methylenetetrahydrofolate Reductase Polymorphisms in Iranian Women with Recurrent Pregnancy Loss

Jeddi-Tehrani

Torabi

Zarnani

et al. 2011

American J Rep Immunol

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Section: Discussionmentioning

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Analysis of Plasminogen Activator Inhibitor‐1, Integrin Beta3, Beta Fibrinogen, and Methylenetetrahydrofolate Reductase Polymorphisms in Iranian Women with Recurrent Pregnancy Loss

Jeddi-Tehrani

Torabi

Zarnani

et al. 2011

American J Rep Immunol

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“…Consequently, the perturbation of methionine synthesis also affects subsequent methylation of other acceptors. It was reported that the elevation of homocysteine in the blood increases the risk of recurrent spontaneous abortions as well as of neural tube defects and placental abruption (5)(6)(7)(8). However, many others failed to find any significant associations between maternal MTHFR C677T polymorphism and spontaneous abortions.…”

mentioning

confidence: 99%

Prevalent genotypes of methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) in spontaneously aborted embryos

Bae¹,

Shin

Hee

et al. 2007

Fertility and Sterility

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“…While some have reported the presence of the mutant genotype of the 677C→T polymorphism to be associated with increased risk for abruption, 25, 28, 29 others have not. [30][31][32] Association between the 1298A→C variant and abruption risk is less well examined. Whether a gene-gene interaction in the 677C→T and 1298A→C polymorphisms of the MTHFR gene on the risk of placental abruption exists also remains uncertain.…”

mentioning

confidence: 99%

Associations between 2 polymorphisms in the methylenetetrahydrofolate reductase gene and placental abruption

Ananth

Peltier

Marco

et al. 2007

American Journal of Obstetrics and Gynecology

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Objective-Heritable thrombophilias have been implicated as a potential etiology of abruption via vascular disruption at the uteroplacental interface. Polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene have been linked to vascular complications outside of pregnancy, including stroke. Given the underlying thrombotic nature of abruption, we hypothesized that polymorphisms in the MTHFR gene are associated with abruption. Study design-We examined 2 variants in MTHFR:677C→T and 1298A→C in genomic DNA extracted from maternal blood from the New Jersey-Placental Abruption Study, an ongoing, multicenter case-control study. We identified 195 women with a clinical diagnosis of abruption (cases), and 189 controls matched on race/ethnicity and parity. We assessed allele and genotype frequencies, and their associations with abruption risk after adjusting for confounders through multivariable logistic regression analysis.Results-The wild-type allele (C) frequency of the 677C→T variant of MTHFR among cases and controls was 69.0% and 64.3%, respectively, and the wild-type allele (A) of the 1298A→C variant was 75.9% and 79.4%, respectively. Distributions of the 677C→T alleles among controls violated the Hardy-Weinberg equilibrium (P=0.007), while those of the 1298A→C alleles were in equilibrium (P=0.825). In comparison to the wild-type genotype (C/C), the homozygous mutant form (T/T) of 677C→T was not associated with abruption (OR 0.60, 95% confidence interval (CI) 0.33, 1.18). Similarly, the homozygous mutant form (C/C) of the 1298A→C polymorphism was equally distributed between cases and controls (OR 2.28, 95% CI 0.82, 6.35 Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final citable form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.In this case-control study, 677C→T and 1298A→C polymorphisms in MTHFR were not associated with increased risk of placental abruption. Conclusions-In this population, neither heterozygosity nor homozygosity for the 677C→T and 1298A→C variants in MTHFR was associated with placental abruption. NIH Public Access KeywordsPlacental abruption; MTHFR; linkage disequilibrium; case-control; DNA Placental abruption is a serious obstetrical complication that occurs in approximately 1 in 100 pregnancies. 1-3 Although its occurrence is relatively uncommon, it is a major cause of third trimester bleeding, and accounts for a disproportionately high rate of preterm birth, low birthweight, stillbirth and infant mortality. 4-8 The etiology of abruption is poorly understood, but epidemiologic studies have observed advanced maternal age, multiparity, smoking, crack and cocaine use, intra-amniotic infections, prolonge...

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Combined heterozygosity for methylenetetrahydrofolate reductase (MTHFR) mutations C677T and A1298C is associated with abruptio placentae but not with intrauterine growth restriction

Cited by 34 publications

References 17 publications

Analysis of Plasminogen Activator Inhibitor‐1, Integrin Beta3, Beta Fibrinogen, and Methylenetetrahydrofolate Reductase Polymorphisms in Iranian Women with Recurrent Pregnancy Loss

Analysis of Plasminogen Activator Inhibitor‐1, Integrin Beta3, Beta Fibrinogen, and Methylenetetrahydrofolate Reductase Polymorphisms in Iranian Women with Recurrent Pregnancy Loss

Prevalent genotypes of methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) in spontaneously aborted embryos

Associations between 2 polymorphisms in the methylenetetrahydrofolate reductase gene and placental abruption

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