Metabolism and gene polymorphisms of the folate pathway in Brazilian women with history of recurrent abortion

Boas, Wendell Vilas; Gonçalves, Rozana Oliveira; Costa, Ozeas S.; Gonçalves, Marilda Souza

doi:10.1590/so100-720320140005223

Cited by 16 publications

(9 citation statements)

References 21 publications

(36 reference statements)

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“…It has been found that elevated levels of circulating homocysteine are a risk factor for vascular disease and endothelial dysfunction. Sorensen et al found that second-trimester elevation of homocysteine was related to 3.2-fold increased risk of preeclampsia [19]. Acilmis et al concluded that maternal and fetal serum homocysteine levels were found to be significantly higher in severe preeclampsia group compared to control groups suggesting and mild preeclampsia that elevated serum levels of homocysteine might be associated with severity of preeclampsia [20].…”

Section: Discussionmentioning

confidence: 99%

Investigation the Association Between MTHFR Gene Polymorphism and Homocysteine in Iranian Pregnant Women

Sonbolestan

Sazegar

Zia-Jahromi

et al. 2017

Asian J Pharm Clin Res

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Objective: This study was aimed to investigate the association between polymorphisms in MTHFR gene and Vitamin B12-dependent homocysteine metabolism.Methods: Hyperhomocysteinemia has been implicated as a risk factor for complications in pregnancy including abortion, preeclampsia, and placental abruption. Several epidemiological studies have investigated the associations of MTHFR C677T polymorphism with hypertension or hypertension in pregnancy. However, the results were controversial. Numbers of 100 samples from healthy pregnant women as control criteria and 100 samples from fertile women have been collected. Due to research on MTHFR polymorphism, special primers have been designed. The research on MTHFR polymorphism has been done by restriction fragment length polymorphism assay.Results: The results demonstrated 9.26% have been registered for heterozygous individuals and the homocysteine level of homozygous individuals was 41.18% (higher than the normal level). The results showed a significant difference in the homocysteine levels of homozygous individuals and the homocysteine levels of healthy individuals (p=0.004). Furthermore, there was no significant difference in the homocysteine levels of heterozygous individuals and the homocysteine levels of healthy individuals (p=0.34). Similarly, a significant difference in the B12 levels in blood of homozygous individuals and the homocysteine levels of healthy individuals have been showed (p=0.00).Conclusion: The mutation of gene MTHFR C677T causes an increase of the homocysteine level, decrease of the level of folic acid and B12 vitamin in heterozygous individuals but a relationship among homocysteine level, the level of folic acid and B12 vitamin not found.

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Section: Discussionmentioning

confidence: 99%

Investigation the Association Between MTHFR Gene Polymorphism and Homocysteine in Iranian Pregnant Women

Sonbolestan

Sazegar

Zia-Jahromi

et al. 2017

Asian J Pharm Clin Res

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“…23,24 Women with a suspected thrombophilic disorder should be tested if there is a personal or strong family history of venous thromboembolism, but this testing is not indicated for an isolated diagnosis of RPL. 29,30 However, some studies still demonstrate that homozygosity for certain polymorphisms of MTHFR results in increased risk of idiopathic recurrent miscarriage, but that it is not associated with an increase in serum homocysteine. Many studies have demonstrated that the presence of these polymorphisms is not associated with idiopathic recurrent miscarriage.…”

Section: Thrombophiliasmentioning

confidence: 99%

Evidence-Based Management of Recurrent Pregnancy Loss

Seckin¹,

Schlaff²

2016

Topics in Obstetrics & Gynecology

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Up to 5% of women trying to conceive experience recurrent pregnancy loss (RPL), and incidence increases with maternal age. 1,2 The definition of RPL, or miscarriage, has recently changed from 3 or more consecutive miscarriages to 2 or more losses. Pregnancy loss is defined by the American College of Obstetricians and Gynecologists (ACOG) as "loss of a pregnancy before 20 weeks" of gestation, although the Royal College of Obstetricians and Gynaecologists defines it as "a spontaneous loss of pregnancy before the fetus reaches viability." Two or more miscarriages warrants consideration of a workup for the potential causes, which will help direct management of each case. Although RPL is common, there is great confusion as to the diagnostic tests and treatments supported by existing evidence. This has produced a significant gap between evidence-based and typical care. The purpose of this article is to address this gap by providing a summary of existing evidence regarding RPL and recommendations for appropriate evaluation. Etiology of RPLGenetic defects, particularly aneuploidies, are the most common cause of early pregnancy loss. Fifty percent of early pregnancy losses can be attributed to these genetic defects, which are more common in pregnancies with advanced maternal age. Disorders such as autoimmune phospholipid syndrome (aPLs) represent the most common autoimmune cause of RPL. Other etiologies such as endocrine disorders and uterine abnormalities make up 11% of cases of RPL. A large percentage of those with RPL have a cause that remains unknown. Of couples with unexplained RPL, 75% have a subsequent live birth, although this percentage varies with age (92% for a 20-year-old woman to 20% in women older than 40 years). 3 Advanced Maternal AgeThe most common risk factor for RPL is advanced maternal age (generally considered 35 years or older), which increases the risk for many other associated problems such as aneuploidies, maternal diabetes, and other endocrinopathies. Detection of genetic defects may be accomplished by noninvasive screening with cell-free fetal DNA starting at 10 weeks' gestation. This screening test is now offered to women who will be at least 35 years of age at the time of delivery. 4 As women in their reproductive years age, ovarian reserve decreases as a result of a smaller follicle pool. Although the decreased follicle pool and ovarian reserve are not directly associated with recurrent miscarriage, there is an association Learning Objectives: After participating in this CME activity, the obstetrician/gynecologist should be better able to: 1. Identify patients at increased risk for recurrent pregnancy loss. 2. Order and interpret diagnostic tests that are indicated on the basis of existing best evidence. 3. Initiate evidence-based treatment of recurrent pregnancy loss when indications are present.

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“…MTHFR C667T mutation have been described in Brazilian [ 9 ], Japanese [ 10 ], Indian [ 11 ], and Sri Lankan [ 12 ]. Since Nepal shares the ancestral origin with India and people have been sharing similar lifestyles for a long period of life it was relevant to check the occurrence of same mutation in RPL population of Nepal as well.…”

Section: Introductionmentioning

confidence: 99%

Association of parental methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism in couples with unexplained recurrent pregnancy loss

Sah

Shrestha²,

Joshi³

et al. 2018

BMC Res Notes

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ObjectiveThe aim of this study was to identify the association of parental MTHFR C677T gene polymorphism in couples with and without RPL history.ResultsDuring the study, 21.4% (15/70) of Ala222Val polymorphism was observed among RPL couples while no polymorphism was seen among normal, healthy couples. Our study did not find any association between MTHFR C677T polymorphism and gender (p > 0.05), gestational period (p > 0.05), geographical region (p > 0.05) and menstrual history (p > 0.05). However, significant association was seen between MTHFR C677T polymorphism and number of losses (p < 0.05), concluding that the risk of the polymorphism increased with the increase in number of losses. Significant variation in the MTHFR C677T genotype with number of losses among RPL couples were seen but not with other study variables.Electronic supplementary materialThe online version of this article (10.1186/s13104-018-3321-x) contains supplementary material, which is available to authorized users.

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Metabolism and gene polymorphisms of the folate pathway in Brazilian women with history of recurrent abortion

Cited by 16 publications

References 21 publications

Investigation the Association Between MTHFR Gene Polymorphism and Homocysteine in Iranian Pregnant Women

Investigation the Association Between MTHFR Gene Polymorphism and Homocysteine in Iranian Pregnant Women

Evidence-Based Management of Recurrent Pregnancy Loss

Association of parental methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism in couples with unexplained recurrent pregnancy loss

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