Genes and the preeclampsia syndrome

Mütze, S.; Rudnik‐Schöneborn, Sabine; Zerres, Klaus; Rath, Werner

doi:10.1515/jpm.2008.004

Cited by 141 publications

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“…In contrast to most of the other studies, Nagy et al (20) (32). A two-fold increase in pre-eclampsia risk was demonstrated for the factor V Leiden mutation (OR 1.81, 95%CI 1.14-2.87) while no effects were detected for prothrombin G mutation or homozygosity for MTHFR 677C>T. However, when the more recent studies published up to the end of 2007 are additionally considered, there is no evidence for a major effect of these common thrombophilias on pre-eclampsia risk as most studies failed to demonstrate a significant association (31).…”

Section: Discussionmentioning

confidence: 95%

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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Section: Discussionmentioning

confidence: 95%

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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“…7,8,20 Group I -vasoactive and vascular remodeling proteins: nitric oxide synthase; renin; type I and II angiotensin receptors; angiotensin converting enzyme; polycarboxypeptidase; endothelin-1; alpha and beta estrogen receptors; endoglin; tyrosine-kinase fms-like receptor-1; placental growth factor; and vascular endothelial growth factor. 20 Group II -thrombophilia and hypofibrinolysis: methyltetrahydrofolate reductase; Leiden Factor V; prothrombin; fetal thrombophilia; plasminogen activator inhibitor-1; B3 integrin; and glycoprotein IIIA. 20 Group III -oxidative stress, lipid metabolism, endothelial injury: epoxide hydrolase; glutathione transferase; superoxide dismutase; cytochrome P450 1A1; lipoprotein lipase; apolipoprotein E; and long-chain 3-hydroxyacylCoA dehydrogenase.…”

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confidence: 99%

“…20 Group III -oxidative stress, lipid metabolism, endothelial injury: epoxide hydrolase; glutathione transferase; superoxide dismutase; cytochrome P450 1A1; lipoprotein lipase; apolipoprotein E; and long-chain 3-hydroxyacylCoA dehydrogenase. 20 Group IV -immunogenetic: human leukocyte antigen; interleukins 1 and 10; and tumor necrosis factor. 20 Physiologically, in order to promote vascular remodeling, the changes of the decidua also occur in the inner area of the myometrium.…”

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confidence: 99%

“…20 Group IV -immunogenetic: human leukocyte antigen; interleukins 1 and 10; and tumor necrosis factor. 20 Physiologically, in order to promote vascular remodeling, the changes of the decidua also occur in the inner area of the myometrium. 21 An interaction of trophoblastic human leukocyte antigen (HLA) C, HLA-E, HLA-G with natural killer cells or dendritic cells or both is necessary for this event to occur.…”

mentioning

confidence: 99%

“…20 Group II -thrombophilia and hypofibrinolysis: methyltetrahydrofolate reductase; Leiden Factor V; prothrombin; fetal thrombophilia; plasminogen activator inhibitor-1; B3 integrin; and glycoprotein IIIA. 20 Group III -oxidative stress, lipid metabolism, endothelial injury: epoxide hydrolase; glutathione transferase; superoxide dismutase; cytochrome P450 1A1; lipoprotein lipase; apolipoprotein E; and long-chain 3-hydroxyacylCoA dehydrogenase. 20 Group IV -immunogenetic: human leukocyte antigen; interleukins 1 and 10; and tumor necrosis factor.…”

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2016

Rev Bras Ginecol Obstet

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Rev Bras Ginecol Obstet 2016;38:369-372.Hypertensive disease of pregnancy, postpartum hemorrhage and infectious syndromes in pregnancy and puerperium are the leading causes of morbidity and mortality for pregnant women around the world. 1 Their frequency varies according to the country and accessibility to health care. 1 Hypertensive diseases, including preeclampsia, complicate 2-10% of all pregnancies. 1-3 In Latin America and the Caribbean, hypertensive disorders are responsible for at least 26% of maternal deaths. 3 Preeclampsia is a multifactorial disease caused by environmental factors that act over a genetic base, permitting the occurrence of this disorder. 4-12 Based on this premise, the risk factors considered for the development of this disease are: overweightness; obesity; nulliparity and multiparity; being at the extremes of reproductive life; vascular diseases, such as chronic hypertension; metabolic diseases, such as diabetes mellitus; collagen diseases, such as systemic lupus erythematosus; multiple pregnancies; maternal and paternal family history 12-14 (paternal imprinting expressed in the mother); pregnancy by assisted reproductive techniques; 12 micropolycystic ovary syndrome with insulin resistance; 15 severe anemia; 16 antiphospholipid syndrome; 17 and low-calcium diets consumed by people living at high altitudes. 18,19 The interaction of risk factors and multiple polymorphic genes induces the synthesis of several proteins with effects differing from their original function, leading to the impairment of placental perfusion and the consequent production of mediators that damage the endothelium. The main proteins and others factors involved are listed below. 7,8,20 Group I -vasoactive and vascular remodeling proteins: nitric oxide synthase; renin; type I and II angiotensin receptors; angiotensin converting enzyme; polycarboxypeptidase; endothelin-1; alpha and beta estrogen receptors; endoglin; tyrosine-kinase fms-like receptor-1; placental growth factor; and vascular endothelial growth factor. 20 Group II -thrombophilia and hypofibrinolysis: methyltetrahydrofolate reductase; Leiden Factor V; prothrombin; fetal thrombophilia; plasminogen activator inhibitor-1; B3 integrin; and glycoprotein IIIA. 20 Group III -oxidative stress, lipid metabolism, endothelial injury: epoxide hydrolase; glutathione transferase; superoxide dismutase; cytochrome P450 1A1; lipoprotein lipase; apolipoprotein E; and long-chain 3-hydroxyacylCoA dehydrogenase. 20 Group IV -immunogenetic: human leukocyte antigen; interleukins 1 and 10; and tumor necrosis factor. 20 Physiologically, in order to promote vascular remodeling, the changes of the decidua also occur in the inner area of the myometrium. 21 An interaction of trophoblastic human leukocyte antigen (HLA) C, HLA-E, HLA-G with natural killer cells or dendritic cells or both is necessary for this event to occur. The presence of certain combinations of HLA-C and isoform types of immunoglobulin receptors bound to natural killer cells predispose to preeclampsia. [22][23][24]...

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Molecular Genetics of Predisposition to Respiratory Disorders in Newborn

Tulassay

Treszl

Vásárhelyi

2009

Encyclopedia of Life Sciences

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During the perinatal period, preterm neonates face severe complications. These include disorders of the lung such as respiratory distress syndrome and chronic lung disease. The risk of complications depends on maturity, but data also suggest the existence of an inherited susceptibility. This may be due to genetic polymorphisms and inherited mutations. Reported associations between lung disease and polymorphisms of genes encoding proteins that regulate inflammation, vasoregulation and lung development helped the identification of specific genetic elements in perinatal respiratory disorders. In a minority of newborns inherited mutations such as those of surfactant protein encoding gene may be responsible for the development of perinatal lung disorders. Further studies are required to assess those genetic patterns that can be used for the identification of patients at risk. Key concepts: Perinatal respiratory disorders affect primarily preterm infants. These include idiopathic respiratory disorder, bronchopulmonary dysplasia. Inherited genetic polymorphisms may be a risk factor of these complications. Genetic polymorphisms with an impact on immune response, vasoregulation and lung development are extensively tested. Several associations between polymorphisms and disease were reported. Other data support the contribution of genetics to other perinatal complications that are risk factors for respiratory disorders. Rare mutations may also cause perinatal lung disorders in some infants. One day the results of these studies may serve as a basis for individualized therapy and risk assessment; currently we are far from this goal.

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Genes and the preeclampsia syndrome

Cited by 141 publications

References 241 publications

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

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

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Molecular Genetics of Predisposition to Respiratory Disorders in Newborn

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