Singleton pregnancy losses before gestational week 22 among patients with autoimmune disorders and Methylenetetrahydrofolate reductase polymorphisms

2022 ◽  
pp. 1-7
Author(s):  
Murat Cagan ◽  
Ummuhan Okuducu ◽  
Hanife Guler Donmez ◽  
Mehmet Sinan Beksac
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Autoimmune Disorders ◽  
Clinical Findings ◽  
Mthfr Gene ◽  
Maternal Risk Factors ◽  
Singleton Pregnancy ◽  
Mthfr Polymorphisms ◽  
Maternal Risk ◽  
Gestational Week ◽  
Singleton Pregnancies

BACKGROUND: The rates of pregnancy losses (PLs) are increased by maternal risk factors such as autoimmune disorders (AD) and methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms. OBJECTIVE: To evaluate singleton PLs before gestational week (gw) 22 among patients with AD and MTHFR polymorphisms. METHODS: Totally, 1108 singleton pregnancies in 243 women were categorized as: 1) 148 pregnancies in 33 patients with AD, 2) 316 pregnancies in 66 patients with MTHFR polymorphisms, 3) 644 pregnancies in 144 patients with AD +MTHFR polymorphisms. PLs were classified into subgroups: a) Chemical Pregnancy(CP), b) Blighted Ovum(BO), c) gw ⩽ 10, d) gw11–14 e) gw15–22, f) Ectopic Pregnancy(EP), g) Trophoblastic Disease(TD). Obstetric histories were compared using Beksac Obstetrics Index (BOI): [number of living child + (π/10)]/gravida. RESULTS: PL rates before gw22 were 39.2% (58/148), 33.2% (105/316), and 36.3% (234/644) in AD, MTHFR, and AD +MTHFR groups, respectively (p= 0.421). The rate of Pre-Prenatal Screening Period fetal losses (CP + BO + gw ⩽ 10 fetal losses + EP + TD) were 84.8%, 75.9%, and 77.8% in AD, MTHFR, and AD +MTHFR, respectively (p= 0.264). Gravidity ⩽ 4 versus those with gravidity ⩾ 5 had statistically significant differences in BOI (p< 0.001). CONCLUSIONS: PL rate before gw22 among singleton pregnancies with AD and/or MTHFR polymorphisms was 35.8%. The clinical findings seem to be more complicated in patients with gravidity ⩾ 5.

scholarly journals Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study)

2017 ◽  
Vol 25 (1) ◽  
pp. 27-35
Author(s):  
Simona Bucerzan ◽  
Radu Anghel Popp ◽  
Raluca Maria Vlad ◽  
Cecilia Lazea ◽  
Radu Nicolaescu ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr Gene ◽  
Control Group ◽  
Healthy Children ◽  
Mthfr Polymorphisms ◽  
Maternal Risk ◽  
Reductase Gene ◽  
A1298c Polymorphism ◽  
Methylenetetrahydrofolate Reductase Gene

Abstract Aim: To assess the risk for trisomy 21 in children, depending on the polymorphisms C677T and A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene in mothers. Methods: For 93 mothers who have children with trisomy 21 and 202 mothers of healthy children (control group), genotyping of MTHFR polymorphisms C677T and A1298C was performed. Results: For each polymorphism, three genotypes were identified (normal homozygous, heterozygous and mutant homozygous). For the polymorphism C677T, the frequencies of the three genotypes (CC, CT and TT) were 50.5%, 40.8% and 8.6% in mothers of children with trisomy 21, versus 42.6%, 46% and 11.4% in mothers of healthy children, with no statistically significant differences. The frequency of the polymorphism A1298C was not statistically significant between the two groups for the genotype (AA) (48.4% vs 56.4%) or the genotype (AC) (39.8% vs 38.6%), but the genotype TT was more frequent in mothers of children with trisomy 21 (11.8% vs 4.9%; p = 0.033; OR = 2.57). Conclusion: Women with genotype CC for the polymorphism A1298C of the MTHFR gene have a 2.57 times higher risk of offspring with trisomy 21.

Methylenetetrahydrofolate reductase polymorphisms as risk factors for retinal venous occlusive disease: A literature review

2021 ◽  
pp. 112067212110006
Author(s):  
Manuel Marques ◽  
Francisco Alves ◽  
Miguel Leitão ◽  
Catarina Rodrigues ◽  
Joana Tavares Ferreira
Keyword(s):  
Risk Factors ◽  
Literature Review ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Mthfr Polymorphisms ◽  
Vein Occlusion ◽  
C677t Mutation ◽  
Retinal Vascular Disease

The role of polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene in retinal vein occlusion (RVO) is a theme of discussion since the first reports of RVO in patients with MTHFR C677T mutation and without classic acquired risk factors for retinal vascular disease. The association between MTHFR polymorphisms and RVO has been studied over the last 20 years producing conflicting results. This review aims to summarize the literature concerning the role MTHFR polymorphisms as risk factors for RVO.

scholarly journals Should MTHFR 1298 A>C be tested together with MTHFR 677 C>T polymorphism in women with reproductive challenges?

Genetika ◽  
2017 ◽  
Vol 49 (2) ◽  
pp. 377-386
Author(s):  
Jelena Djurovic ◽  
Oliver Stojkovic ◽  
Jelena Todorovic ◽  
Kristina Savic ◽  
Gorana Stamenkovic
Keyword(s):  
Genomic Dna ◽  
Methylenetetrahydrofolate Reductase ◽  
Critical Role ◽  
Mthfr Gene ◽  
Elevated Risk ◽  
Similar Frequency ◽  
Mthfr Polymorphisms ◽  
Healthy Female ◽  
Healthy Control ◽  
Associated Conditions

Methylenetetrahydrofolate reductase (MTHFR) plays a critical role in the folate metabolism. The polymorphism 677C>T of the MTHFR gene, producing thermolabile enzyme with decreased function, is widely studied and associated with many conditions. Additionally, it has been shown that another polymorphism, 1298A>C, also reduces the activity of this enzyme, although to a lesser extent. The aim of this study is to evaluate the clinical informativeness of testing both MTHFR polymorphisms. Genomic DNA, were extracted from peripheral blood of 180 female patients with pregnancy complications and 183 healthy female controls, and genotyped for MTHFR 677C>T and 1298A>C loci, using TaqMan assays. Our study found similar frequency of alleles and genotypes between two groups. Based on MTHFR 677C>T genotype, 11.7% of patients homozygous for this mutation were under the possible risk. When the position 1298 was included in the testing, 22.8% of the patients were heterozygous for both polymorphisms. Additionally, 8.9% of the patients were homozygous only for the MTHFR 1298 mutation. Although,s there was no differences compared to healthy control (p>0.05), 43% of patients were found to have elevated risk which is about four time highers than results with only MTHFR 677C>T genotyping. After obtaining information for the 677 position, testing for the second polymorphism (1298A>C) should be considered, since we have shown that it dramatically increases the rate of detection of patients who are potentially at risk for MTHFR associated conditions.

scholarly journals Fatores de risco maternos para toxoplasmose numa maternidade pública do nordeste do brasil

2019 ◽  
pp. 31494-31497
Keyword(s):  
Data Collection ◽  
Pregnant Women ◽  
Maternity Hospital ◽  
Maternal Risk Factors ◽  
Maternal Risk ◽  
Significant Difference ◽  
Data Collection Instrument ◽  
Gestational Week ◽  
First Time ◽  
Toxoplasmosis During Pregnancy

Introduction: Vertical transmission by Toxoplasma gondii usually occurs in women who are infected for the first time during pregnancy. Screening for toxoplasmosis during pregnancy is one of the measures adopted in our country as a form of prevention. Objective: To investigate maternal risk factors associated with gestational toxoplasmosis in a large maternity hospital located in Fortaleza-Ceará. Methodology: This is an observational, quantitative comparative study conducted in a federal public maternity hospital located in Fortaleza, Ceará, Brazil in 2014. Data collection occurred from January to March 2014, through the analysis of medical records. guided by a data collection instrument. The research project was submitted to the Assis Chateaubriand School Maternity Research Ethics Committee (MEAC), and was approved in the register 513.392 / 2014-14. Results: The sample analyzed was established by high risk pregnant women aged 13 to 40 years. The diagnosis of toxoplasmosis was predominant in the age group between 20 and 30 years. As managers diagnosed with toxoplasmosis reside mainly in the interior of Ceará with statistically significant difference compared to pregnant women residing in the capital. Conclusion: It can be concluded that the analysis analyzed as the variables that were associated with toxoplasmosis were: residing within the state, gestational week between 13 to 27 weeks, normal sharing and using positive IgG serology for toxoplasmosis.

Role of MTHFR genetic polymorphisms in the susceptibility to childhood acute lymphoblastic leukemia

Blood ◽  
2004 ◽  
Vol 103 (1) ◽  
pp. 252-257 ◽  
Author(s):  
Maja Krajinovic ◽  
Stéphanie Lamothe ◽  
Damian Labuda ◽  
Émilie Lemieux-Blanchard ◽  
Yves Théorêt ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Methylenetetrahydrofolate Reductase ◽  
Lymphoblastic Leukemia ◽  
Protective Role ◽  
Mthfr Gene ◽  
Environment Interaction ◽  
Crude Odds Ratio ◽  
Childhood All ◽  
Mthfr Polymorphisms

Abstract The central role of methylenetetrahydrofolate reductase (MTHFR) in the folate metabolism renders MTHFR gene polymorphisms (C677T and A1298C) potential modulators of a variety of disorders whose development depends on folate/homocysteine imbalance. Here, we provide additional evidence on the protective role of these polymorphisms in acute lymphoblastic leukemia (ALL), the most common pediatric cancer. A case-control study was conducted in 270 ALL patients and 300 healthy controls of French-Canadian origin. The TT677/AA1298 and CC677/CC1298 individuals were associated with reduced risk of ALL (crude odds ratio [OR] = 0.4; 95% confidence interval [CI], 0.2-0.9; and OR = 0.3; 95% CI, 0.1-0.6; respectively). Further stratification in patients born before and after January 1996 (approximate time of Health Canada recommendation for folic acid supplement in pregnancy) revealed that the protective effect of MTHFR variants is accentuated and present only in children born before 1996. Similar results were obtained when a transmission disequilibrium test was performed on a subset of children (n = 95) in a family-based study. This finding suggests gene-environment interaction and its role in the susceptibility to childhood ALL, which is consistent with previous findings associating either folate deficiency or MTHFR polymorphisms with risk of leukemia.

scholarly journals Effects of Ocufolin on retinal microvasculature in patients with mild non-proliferative diabetic retinopathy carrying polymorphisms of the MTHFR gene

2021 ◽  
Vol 9 (1) ◽  
pp. e002327
Author(s):  
Zhiping Liu ◽  
Hong Jiang ◽  
Justin H Townsend ◽  
Jianhua Wang
Keyword(s):  
Diabetic Retinopathy ◽  
Proliferative Diabetic Retinopathy ◽  
Structural Changes ◽  
Methylenetetrahydrofolate Reductase ◽  
Vision Loss ◽  
Retinal Vessel ◽  
Mthfr Gene ◽  
Mthfr Polymorphisms ◽  
Retinal Microvasculature

IntroductionTo evaluate effects of Ocufolin on retinal microvasculature in mild non-proliferative diabetic retinopathy patients who carried methylenetetrahydrofolate reductase (MTHFR) polymorphisms (DR+MTHFRP).Research design and methodsThis is a prospective cohort study. Eight DR+MTHFRP (administrated Ocufolin for 6 months) and 15 normal controls (NCs) were recruited. MTHFR polymorphisms were subtyped as normal, C677T, or A1298C. Best-corrected visual acuity (BCVA) was evaluated. Retinal vessel density (VD) and microstructure were evaluated by optical coherence tomography angiography.ResultsBCVA and vascular indices of DR+MTHFRP at baseline were worse than those of NC and improved. Compared with baseline, DR+MTHFRP had significantly improved BCVA during follow-up period (p<0.05). VD of superficial vascular plexus was increased at 4 months (p=0.012), while VD of retinal vascular network did not change (p>0.05). Carriers of A1298C and C677T showed statistically significant increase in VD at all layers by 6 months, while carriers of C677T alone showed no significant change and carriers of A1298C alone showed decreased density from 4 months to 6 months. Microstructure did not change during the follow-up period.ConclusionA 6-month intake of Ocufolin is capable of reversing structural changes of microangiopathy in mild non-proliferative DR+MTHFRP. This suggests a novel way to address these impairments prior to catastrophic vision loss.

Folate, Homocysteine and Neural Tube Defects: An Overview

2001 ◽  
Vol 226 (4) ◽  
pp. 243-270 ◽  
Author(s):  
Nathalie M.J. Van Der Put ◽  
Henny W.M. Van Straaten ◽  
Frans J.M. Trijbels ◽  
Henk J. Blom
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Genetic Risk ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr Gene ◽  
Folate Intake ◽  
Elevated Blood ◽  
Moderate Risk ◽  
Mthfr Polymorphisms ◽  
Increased Risk

Folate administration substantially reduces the risk on neural tube defects (NTD). The interest for studying a disturbed homocysteine (Hcy) metabolism in relation to NTD was raised by the observation of elevated blood Hcy levels in mothers of a NTD child. This observation resulted in the examination of enzymes involved in the folate-dependent Hcy metabolism. Thus far, this has led to the identification of the first and likely a second genetic risk factor for NTD. The C677T and A1298C mutations in the methylenetetrahydrofolate reductase (MTHFR) gene are associated with an increased risk of NTD and cause elevated Hcy concentrations. These levels can be normalized by additional folate intake. Thus, a dysfunctional MTHFR partly explains the observed elevated Hcy levels in women with NTD pregnancies and also, in part, the protective effect of folate on NTD. Although the MTHFR polymorphisms are only moderate risk factors, population-wide they may account for an important part of the observed NTD prevalence.

Methylenetetrahydrofolate Reductase (MTHFR) Polymorphisms of Both Donor and Recipient Can Modify the Rate of Recurrence in Allogeneic Hematopoietic Stem Cell Transplantation.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 4933-4933
Author(s):  
So Yeon Oh ◽  
Hye Jin Kim ◽  
Hyeon Gyu Yi ◽  
Jin Won Kim ◽  
Cheng Zhe Piao ◽  
...  
Keyword(s):  
Multivariate Analysis ◽  
Methylenetetrahydrofolate Reductase ◽  
Hematologic Malignancy ◽  
Univariate Analysis ◽  
Mthfr Gene ◽  
Hematopoietic Stem ◽  
Homogeneous Population ◽  
Mthfr Polymorphism ◽  
Mthfr Polymorphisms ◽  
Gvhd Prophylaxis

Abstract Introduction Clinical significance of polymorphism in MTHFR gene is widely described in various disease entities. Polymorphism is associated with decreased metabolism of methotrexate. Because methotrexate is commonly used to prevent GVHD in HSCT, we studied transplantation outcomes according to genotypes of donor and recipient MTHFR; about the most studied two polymorphism sites (677C/T and 1298A/C). Materials and Methods Patients and donors who underwent allogeneic HSCT due to hematologic malignancy between 1998 and 2006 were retrieved. Patients had received MTX and cyclosporine for GVHD prophylaxis were included. The genotyping of MTHFR polymorphism was screened using SNaPShot Multiplex kit. Clinical data were collected retrospectively. Results We found 99 patients consisted of 60 males (60%) and 39 females (39%) in this homogeneous population. Median age was 34 years (range17–59). Diagnosis were acute leukemia (n=67), chronic leukemia (n=20) and other diseases (n=12). Donor was related(n=72) or unrelated(n=27). Conditioning was myeloablative in 95 patients and nonmyeloablative in 4 patients. Median PFS and OS were 6 (range 0–101) and 15 (range 0–108) months. Clinical factors and genotype are analyzed for risk of hepatic toxicity, recurrence, TRM and death. Peak AST and ALT levels are higher in the 677TT group than in the CC or TT group. In univariate analysis, recipient or donor 1298AA, AC, and CC were likely to relapse in ascending orders (figure1). This was reproduced in multivariate analysis (p=0.008 and 0.011, for each). About TRM and survival, there were no significant correlations with MTHFR genotypes in both univariate and multivariate analysis. Conclusion Simultaneously decreased activity of MTHFR due to 1298AC polymorphism of both donor and recipient might be translated into increased recurrence rate. Validation with randomized trial is required to compare methotrexate to other drug for GVHD prophylaxis. Figure Figure

scholarly journals C677t (rs1801133 ) MTFHR gene polymorphism frequency in a colombian population

2015 ◽  
pp. 75-79 ◽  
Author(s):  
Consuelo Romero Sanchez ◽  
Alberto Gomez Gutierrez ◽  
Piedad Elena Gomez ◽  
María Consuelo Casas Gomez ◽  
Ignacio Briceño
Keyword(s):  
Microarray Data ◽  
Healthy Subjects ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr Gene ◽  
Genetic Associations ◽  
Mthfr Polymorphisms ◽  
Increased Risk ◽  
Need To Evaluate ◽  
Genotype C ◽  
Therapeutic Alternatives

Introduction: Abnormal levels of the enzyme methylenetetrahydrofolate reductase (MTHFR) are associated with an increased risk of both cardiovascular and cerebrovascular disease and higher concentrations of homocysteine. Abnormal levels are also related to birth defects, pregnancy complications, cancer and toxicity to methotrexate (MTX). Polymorphisms of MTHFR affect the activity of the enzyme. Genetic associations have been related to treatment efficacy. Objective: To establish the frequency of the C> T polymorphism at nucleotide 677 of the MTHFR gene in a group of Colombian individuals. Methods: Data from pharmacogenetic microarrays that include MTX sensibility-associated polymorphisms were retrospectively collected (Pathway Genomics®). The frequency of the C> T MTHFR rs1801133 marker polymorphism was analyzed. Results: Microarray data from 68 men and 84 women were analyzed. Comparisons of genotype C/C vs. C/T and T/T were statistically significantly different (p= 0.00, p= 0.026, respectively), as were C/T and T / T (p= 0.0001). Conclusions: Results for the C/C and C/T genotypes in a Colombian population are similar to other previously studied groups of healthy subjects. Subjects from our population might be at risk of developing diseases associated with MTHFR polymorphisms and might present toxicity and adverse effects if treated with MTX, which suggests the need to evaluate therapeutic alternatives based on individual pharmacogenetic studies.

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