High frequency of methylenetetrahydrofolate reductase 677TT genotype in Hungarian HELLP syndrome patients determined by quantitative real-time PCR

Nagy, Béla; Hupuczi, Petronella; Papp, Zoltán

doi:10.1038/sj.jhh.1002122

Cited by 26 publications

(17 citation statements)

References 28 publications

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“…The MTHFR C677T polymorphism was determined by quantitative real-time PCR. The mutant T allele was found in 45% of women with the HELLP syndrome, in 32% of the healthy pregnant women, and in 30% of women with severe preeclampsia [43]. The results showed no difference in the distribution of the MTHFR C677T genotypes between the healthy controls and women with preeclampsia.…”

Section: Mthfr Polymorphism Homocysteine Preeclampsia and Hellpmentioning

confidence: 99%

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Genetic Aspects of Preeclampsia and the HELLP Syndrome

Haram

Mortensen

Nagy

2014

Journal of Pregnancy

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Both preeclampsia and the HELLP syndrome have their origin in the placenta. The aim of this study is to review genetic factors involved in development of preeclampsia and the HELLP syndrome using literature search in PubMed. A familial cohort links chromosomes 2q, 5q, and 13q to preeclampsia. The chromosome 12q is coupled with the HELLP syndrome. The STOX1 gene, the ERAP1 and 2 genes, the syncytin envelope gene, and the −670 Fas receptor polymorphisms are involved in the development of preeclampsia. The ACVR2A gene on chromosome 2q22 is also implicated. The toll-like receptor-4 (TLR-4) and factor V Leiden mutation participate both in development of preeclampsia and the HELLP syndrome. Carriers of the TT and the CC genotype of the MTHFR C677T polymorphism seem to have an increased risk of the HELLP syndrome. The placental levels of VEGF mRNA are reduced both in women with preeclampsia and in women with the HELLP syndrome. The BclI polymorphism is engaged in development of the HELLP syndrome but not in development of severe preeclampsia. The ACE I/D polymorphism affects uteroplacental and umbilical artery blood flows in women with preeclampsia. In women with preeclampsia and the HELLP syndrome several genes in the placenta are deregulated. Preeclampsia and the HELLP syndrome are multiplex genetic diseases.

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Section: Mthfr Polymorphism Homocysteine Preeclampsia and Hellpmentioning

confidence: 99%

“…In the study, however, there was a substantial difference between the incidences of MTHFR 677T genotype among HELLP syndrome women and the other two study groups. Thus, the MTHFR C677T polymorphism might be involved in development of the HELLP syndrome [43]. …”

Section: Mthfr Polymorphism Homocysteine Preeclampsia and Hellpmentioning

confidence: 99%

Genetic Aspects of Preeclampsia and the HELLP Syndrome

Haram

Mortensen

Nagy

2014

Journal of Pregnancy

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“…Previously, many association studies examined the relationship of C677T polymorphism with hypertension and HIP; the results, however, were often irreproducible. [5][6][7] In addition, because of the population heterogeneity of genetic background, it is essential to construct a database of polymorphisms related to hypertension in each racial or ethnic group. 8 To fully address this issue and to minimise genetic background noise, we centred on Chinese populations and meta-analysed the association of MTHFR C677T polymorphism with hypertension and HIP, while addressing heterogeneity, as well as publication bias.…”

Section: Introductionmentioning

confidence: 99%

Strong association of methylenetetrahydrofolate reductase gene C677T polymorphism with hypertension and hypertension-in-pregnancy in Chinese: a meta-analysis

2011

J Hum Hypertens

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Attempts to associate methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism with hypertension have been extensively evaluated, but mostly in Caucasians. We therefore meta-analysed this polymorphism in association with hypertension and hypertensionin-pregnancy (HIP) among Chinese subjects. A randomeffects model was applied irrespective of between-study heterogeneity, which was evaluated by subgroup and meta-regression analyses. Study quality was assessed in duplicate. Publication bias was weighed using Egger's test and funnel plot. Data on 20 qualified studies totalling 4461 Chinese subjects were meta-analysed. In overall allelic/genotypic models, carriers of 677T or 677TT were consistently at significantly increased risk of developing hypertension and HIP. No between-study heterogeneity was identified for all genetic models, with the exception for contrast of allele 677T versus 677C in hypertension association studies (P ¼ 0.03), and the dominant contrast in HIP association studies (P ¼ 0.025). Both the subgroup and meta-regression analyses indicated that study design was a potential source of between-study heterogeneity. Funnel plot and Egger's test suggested no evidence of publication bias. Taken together, our results supported the notion that carriers of 677T or 677TT were at significantly increased risk of developing hypertension and HIP, but indicated caution in interpreting this result, because the study design made marginal significant contribution to the heterogeneity.

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“…Previous association studies on thrombophilic genotypes and HELLP syndrome are summarized in Table 4 (13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26). Most of them were limited to a small sample size and genotyping was not done simultaneously for all of the three most common inherited thrombophilias.…”

Section: Discussionmentioning

confidence: 99%

Maternal Factor V Leiden Mutation Is Associated With HELLP Syndrome in Caucasian Women

Muetze

Leeners

Ortlepp

et al. 2008

Obstetrical &Amp; Gynecological Survey

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Objective. There is growing evidence that hypertensive pregnancy complications and other adverse pregnancy outcomes are associated with the presence of inherited or acquired thrombophilias. As hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome is one of the most severe forms of pre-eclampsia we aimed to assess the prevalence of the factor V Leiden, the prothrombin 20210G >A mutation and the methylenetetrahydrofolate reductase (MTHFR) 677C >T polymorphism in women with HELLP syndrome and in their fetuses from the same index pregnancy. Design. The study was performed retrospectively in a case-control design. Sample. Seventy-one mother-child pairs with HELLP syndrome and 79 control mother-child pairs with uncomplicated pregnancies were included in the study. Methods. Genotyping of the three thrombophilic mutations was performed using the LightCycler technology. The chi-squared test was used for statistical analysis. Main outcome measures were maternal and fetal genotypes and their correlation with clinical parameters. Results. Maternal heterozygosity for factor V Leiden was significantly more prevalent in the HELLP group than in controls (OR 4.45, 95% CI 1.31-15.31). No significant association was observed for maternal prothrombin mutation or MTHFR polymorphism (p=0.894, p=0.189, respectively). The fetal genotype was not associated with HELLP syndrome for any of the three mutations investigated. Analysis of gene-gene interactions and genotype-phenotype correlation with respect to clinical parameters and perinatal outcome revealed no further differences. Conclusions. Our study confirms that women heterozygous for factor V Leiden have an increased risk of developing HELLP syndrome, while the most frequent mutations of the prothrombin and MTHFR gene do not play a major role in the pathogenesis of HELLP syndrome. AbstractObjective: There is growing evidence that hypertensive pregnancy complications and other adverse pregnancy outcomes are associated with the presence of inherited or acquired thrombophilias. As HELLP syndrome is one of the most severe forms of pre-eclampsia we aimed to assess the prevalence of the factor V Leiden, the prothrombin 20210G>A mutation and the MTHFR 677C>T polymorphism in women with HELLP syndrome and in their fetuses from the same index pregnancy. Design:The study was performed retrospectively in a cas-control design. Sample: 71 motherchild pairs with HELLP syndrome and 79 control mother-child pairs with uncomplicated pregnancies were included in the study. Methods: Genotyping of the three thrombophilic mutations was performed using the LightCycler technology. The chi-squared test was used for statistical analysis.

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High frequency of methylenetetrahydrofolate reductase 677TT genotype in Hungarian HELLP syndrome patients determined by quantitative real-time PCR

Cited by 26 publications

References 28 publications

Genetic Aspects of Preeclampsia and the HELLP Syndrome

Genetic Aspects of Preeclampsia and the HELLP Syndrome

Strong association of methylenetetrahydrofolate reductase gene C677T polymorphism with hypertension and hypertension-in-pregnancy in Chinese: a meta-analysis

Maternal Factor V Leiden Mutation Is Associated With HELLP Syndrome in Caucasian Women

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