scholarly journals INVESTIGATION THE ASSOCIATION BETWEEN MTHFR GENE POLYMORPHISM AND HOMOCYSTEINE IN IRANIAN PREGNANT WOMEN

2017 ◽  
Vol 10 (12) ◽  
pp. 411
Author(s):  
Elham Sadat Sonbolestan ◽  
Hossein Sazegar ◽  
Noosha Zia-jahromi ◽  
Farzaneh Mohamadi Farsani
Keyword(s):  
Folic Acid ◽  
Pregnant Women ◽  
Homocysteine Level ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Healthy Individuals ◽  
Mthfr Polymorphism ◽  
Mthfr Gene Polymorphism ◽  
Significant Difference ◽  
In Pregnancy

  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.

scholarly journals PREVALENCE OF MTHFR GENE 677C>T POLYMORPHISM IN THE PATIENTS WITH PSORIASIS VULGARIS

2021 ◽  
Vol 27 (2) ◽  
pp. 3707-3711
Author(s):  
Borislav Dimitrov ◽  
◽  
Dimitar Gospodinov ◽  
Veronika Gincheva ◽  
Regina Komsa-Penkova ◽  
...  
Keyword(s):  
Psoriasis Vulgaris ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Mthfr Polymorphism ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Pasi Score ◽  
Bulgarian Population ◽  
Relationship Of ◽  
The Relationship

The study aimed to investigate the relationship between carriage of 677C>T polymorphism in the gene of methylene tetrahydrofolate reductase (MTHFR) and plaque psoriasis in patients in Bulgaria. We examined the prevalence of MTHFR C677T genotype in patients with psoriasis, as well as the relationship of the polymorphism with disease severity. Our study covered63 patients with psoriasis and 98psoriasis-free control subjects from northern Bulgaria. MTHFR677C>T genotype was verified by the PCR-RFLP method. There was no significant difference between carriage of TT genotype among the patients and controls: 12.7% versus 10.8 %in controls, OR 1.203, (CI 95% 0465-3.175), p>0.05 respectively. There was a higher PASI score in patients, carriers of TT genotype of MTHFR polymorphism 677C>T than in non-carriers, 28.18versus 24.87 respectively, but not significant. Conclusion: Carriage of TT genotype of MTHFR polymorphism 677C>T was not associated with Psoriasis Vulgaris in the northern Bulgarian population when compared to healthy controls.

scholarly journals The assessment of the efficiency of 5-methyltethydrofolate according to level by homocysteine, methionine and betaine in pregnant women with polymorphism rs 1801133 (677 C> T) of the MTHFR gene

2020 ◽  
Vol 24 (4) ◽  
pp. 618-623
Author(s):  
O. B. Lastovetska ◽  
O. V. Bulavenko
Keyword(s):  
Folic Acid ◽  
Pregnant Women ◽  
Mthfr Gene ◽  
Folate Metabolism ◽  
Reproductive Age ◽  
Third Trimester ◽  
The Third ◽  
Serum Homocysteine ◽  
Significant Difference

Annotation. The prevention of early pregnancy loss, taking into account the polymorphism of the genes of enzymes that controlling folate metabolism, have become the goal of clinical studies in recent years, and the determination of risk factors for patients of late reproductive age and embryonic losses in history becomes critical for the development of effective measures to prevent miscarriage. The use of medical prevention of perinatal pathology using a biologically active form of folate in the form of 5-methyltetrahydrofolate in women with anamnestic loss of pregnancy looks promising. The aim of the study was to evaluate the effectiveness of drug prevention in patients with anamnestic embryonic losses, taking into account the role of the rs1801133 (677 C>T) polymorphism of the MTHFR gene based on the results of the dynamics of serum levels of homocysteine, betaine, and methionine. The patients were divided into the main group (polymorphism rs1801133 (677 C>T) of the MTHFR gene and anamnestic embryonic loss), which was divided into 2 subgroups: I subgroup included 20 women who received folic acid preparations (400 μg per day), II subgroup – 20 patients who received a complex preparation containing 5-methyltetrahydrofolate and control groups (practically healthy women) (n=20). Prescribing drugs began at the pre-gravid stage 8–10 weeks before pregnancy planning, and the administration ended up to 26 weeks of pregnancy. Determination of serum homocysteine levels and markers of folate metabolism - methionine and betaine – were performed at the end of the 1st – beginning of the 2nd trimester of pregnancy and in the third trimester. In the study of the effectiveness of preventive therapy on the dynamics of markers of folate metabolism functionality in pregnant women of late reproductive age with anamnestic embryonic losses and polymorphism rs1801133 (677 C>T) of the MTHFR gene when using a combined drug containing folic acid and 5-methyltetrahydrofolate, at the first end – at the beginning In the second trimester, there was a significant increase in betaine and methionine (p<0.05), while in the third trimester, a positive statistically significant difference (p<0.05) was diagnosed in an increase in methionine, betaine and a decrease in serum homocysteine levels.

TS and MTHFR gene polymorphisms in patients (pts) with recurrent or metastatic squamous cell carcinoma of the head or neck (SCCHN) treated with pemetrexed (P) and bevacizumab (B)

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e17011-e17011
Author(s):  
M. Romkes ◽  
T. M. Feinstein ◽  
S. Zhong ◽  
S. Buch ◽  
M. K. Gibson ◽  
...  
Keyword(s):  
Overall Survival ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Trend Test ◽  
Sequence Detection ◽  
Mthfr Polymorphism ◽  
Detection Systems ◽  
Pcr Product ◽  
Significant Difference

e17011 Background: P inhibits multiple enzymes in folate metabolism. We examined polymorphisms in thymidylate synthase (TS) and methylenetetrahydrofolate reductase (MTHFR) in patients with SCCHN treated in a phase II clinical trial with P and B (ASCO 2008; A6069). Methods: All pts were treated with P 500 mg/m2 and B 15 mg/kg, given IV every 21 days until progression. Primary endpoint was time to progression (TTP). DNA was isolated from whole blood samples using commercially available kits. Polymorphisms examined were MTHFR (C677T, A1298C and G1793A) and TS (TS2R3R, TSG2RG and TSmut6). The MTHFR SNPs were detected using TaqMan based SNP genotyping kits from Applied Biosystems, run on the ABI Prism 7700 Sequence Detection systems v 1.7 (Foster City, CA). The TS promoter repeat and promoter SNP polymorphisms and the 3’ untranslated region 6 bp deletion polymorphism were determined using published methods to detect PCR product size and RFLP-PCR assays respectively. Results: 22 pts were genotyped from 34 enrolled. There was no significant difference in characteristics between pts with and without genotype data. For the MTHFR polymorphism C677T, there was a trend towards decreased disease control rate (DCR) (CR/PR/SD) (p = 0.058, Jonckheere-Terpstra trend test) and worse TTP (p = 0.04) transitioning from variant CC to CT to TT; comparing TT genotype versus CT and CC combined, pts with TT had inferior DCR (p = 0.03) and TTP (p = 0.0003); homozygotes with TT had a median TTP of 2.6 months (mo) 95% CI (1.4, NA) versus 5.6 mo (4.2, 11.4) for pts with CT or CC variants. For the MTHFR A1298C SNP, there was no significant difference in DCR between variants, median TTP for homozygotes pts with AA was 4.1 mo (2.6, NA) vs. 6.7 mo (5.1, NA) in pts with AC or CC variants (p = 0.084); median overall survival for AA was 10.2 mo (7.6, NA) and for AC or CC 17.6 mo (17, NA) (p = 0.045). The MTHFR G1793A and TS polymorphisms did not impact DCR, TTP or overall survival. There was no association between any polymorphism and the incidence of grade >2 toxicities. Conclusions: Polymorphisms in MTHFR are potentially associated with antitumor efficacy of P-based therapy in recurrent or metastatic SCCHN. These results warrant validation in larger studies with P in SCCHN. No significant financial relationships to disclose.

scholarly journals Plasma Homocysteine Level And C677T Polymorphism In MTHFR Gene In Patients With Acute Coronary Syndrome

2015 ◽  
Vol 8 (1) ◽  
pp. 46-51
Author(s):  
Andrey V. Grek ◽  
Lyudmyla N. Prystupa ◽  
Tatiana V. Sytnik
Keyword(s):  
Acute Coronary Syndrome ◽  
Endothelial Dysfunction ◽  
Homocysteine Level ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Control Group ◽  
C677t Polymorphism ◽  
Mthfr Polymorphism ◽  
Mthfr C677t Polymorphism ◽  
Coronary Syndrome

SummaryCardiovascular diseases (CVD) of atherosclerotic origin and accompanying complications are a major cause of mortality in the world and Ukraine, in particular. Endothelial dysfunction is the key cause of atherosclerosis and atherothrombosis. One of the causes of endothelial dysfunction is hyperhomocysteinemia that may occur on the background of MTHFR (methylenetetrahydrofolate reductase) mutation.Thus, the goal of the study was to investigate the interrelation between homocysteine (Hc) level and MTHFR polymorphism in patients with acute coronary syndrome (ACS).161 patients with ischemic heart disease and ACS have been examined. The control group comprised 87 healthy individuals. Homocysteine level was the highest in the patients having ACS with ST-segment elevation and complicated course, and was 1.8 times higher than Hc level in the control group. The patients with the most severe ACS course comprised 27 % of homozygotes for the major allele C and 41 % of homozygotes for the minor allele T. Comparing the distribution of MTHFR gene C677T polymorphism in patients with ACS that were stratified by plasma Hc level, we observed a statistically significant association, P < 0.030 by chi-square test. We confirmed that these patients had a high T/T genotype frequency of MTHFR C677T polymorphism. The obtained data proved the association of T/T genotype of MTHFR C677T polymorphism with increased Hc level as well as ACS severity.

Vitamins for the First 1000 Days: Preparing for Life

2012 ◽  
Vol 82 (5) ◽  
pp. 342-347 ◽  
Author(s):  
Ibrahim Elmadfa ◽  
Alexa L. Meyer
Keyword(s):  
Vitamin D ◽  
Folic Acid ◽  
Young Children ◽  
Pregnant Women ◽  
Bone Mineralization ◽  
Type I ◽  
Lactation Performance ◽  
Balanced Diet ◽  
Diabetes Mellitus Type I ◽  
In Pregnancy

Vitamins are essential nutrients for many body functions and particularly important during growth. Adequate supply in pregnancy and in early infancy is therefore crucial, but there is still a lack of knowledge about the needed amounts of vitamins of children older than six months and also during pregnancy. Recommendations for intake levels are generally derived by extrapolation from data for infants based in turn on the contents in breast milk and those for adults. A vitamin of particular importance in pregnancy is folic acid due to its role in the development of the brain and nerve system and the prevention of fetal neural tube defects (NTD). Mandatory fortification of flour and certain other grain products in many countries has been associated with a reduction in NTD incidence. However, other deficiencies or suboptimal status of B vitamins, especially B6 and B12 have been repeatedly reported in pregnant women also in high-income countries. Vitamin A is one of the three most critical micronutrients globally and pregnant women and young children are especially vulnerable to deficiencies. Night blindness, anemia, and immunodeficiency are major consequences of inadequate supply in these populations. Much attention has recently been accorded vitamin D that is also critical in pregnant women and young children for instance because of its involvement in bone mineralization but also its more recently discovered immune-modulating function that is thought to prevent development of autoimmune diseases like diabetes mellitus type I. A healthy balanced diet provides the best basis for optimal pregnancy outcome, lactation performance, and complementary feeding. However, supplements or fortified foods may be needed to cover the high requirements especially of critical vitamins such as vitamin D and folic acid and to correct unfavorable dietary patterns in women or to adapt foods to the needs of young children.

scholarly journals Is MTHFR polymorphism a risk factor for Alzheimer's disease like APOE?

2005 ◽  
Vol 63 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Liana Lisboa Fernandez ◽  
Rosane Machado Scheibe
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Risk Factor ◽  
Methylenetetrahydrofolate Reductase ◽  
Venous Blood ◽  
Dna Amplification ◽  
Mthfr Gene ◽  
Chi Square ◽  
Mthfr Polymorphism ◽  
Significant Difference

BACKGROUND: The role of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms as risk factors for the occurence of Alzheimer's disease (AD) is still controversial: OBJECTIVE: To verify the association between MTHFR and apolipoprotein E (APOE) polymorphisms and Alzheimer's disease. METHOD: This work was conducted as a case-control study. Cases included thirty patients with probable AD. Controls were constituted by 29 individuals without dementia according to neuropsychological tests paired to age, sex, race and educational level. DNA was isolated from peripheral leukocytes of anticoagulated venous blood. Genotyping of APOE and MTHFR were performed by DNA amplification and digestion. The frequences of APOE and MTHFR genotypes were submitted by chi-square test corrected by Fisher test; the APOE genotypes, to chi-square linear tendency test and the frequences of MTHFR mutant and AD, by stratificated anlysis adjust by Mantel-Haenszel method. RESULTS: There was significant difference about APOE4 and APOE2 in the groups. (p=0.002) The odds ratio increased exponentially with the increased number of E4 allele (chi2 linear tendency test). No significant difference was detected on MTHFR genotypes in both case and control groups. CONCLUSION: The APOE4 is a risk factor and demonstrated a dose-depenent effect while APOE2 allele conferred a protection to AD. The MTHFR mutation had no correlation with AD.

scholarly journals Differences in pregnancy and perinatal outcomes among symptomatic versus asymptomatic COVID-19-infected pregnant women: a systematic review and meta-analysis

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Durray Shahwar A. Khan ◽  
La-Raib Hamid ◽  
Anna Ali ◽  
Rehana A. Salam ◽  
Nadeem Zuberi ◽  
...  
Keyword(s):  
Risk Factors ◽  
Systematic Review ◽  
Pregnant Women ◽  
Low Birthweight ◽  
Meta Analysis ◽  
Perinatal Outcomes ◽  
Respiratory Disorder ◽  
Significant Difference ◽  
The Mean ◽  
In Pregnancy

Abstract Background There is dearth of information on COVID-19’s impact on pregnant women. However, literature reported trends of COVID-19 differ, depending on the presence of clinical features upon presentation. Objective This systematic review aimed to assess differences in risk factors, management, complications, and pregnancy and perinatal outcomes in symptomatic vs. asymptomatic pregnant women with confirmed SARS-CoV-2 infection. Methods A search was run on electronic databases to identify studies reporting COVID-19 in pregnancy. Meta-analysis was performed and odds ratios and mean difference with 95% confidence intervals were calculated using Review Manager 5.4. Review Prospero registration number CRD42020204662. Results We included ten articles reporting data from 3158 pregnancies; with 1900 symptomatic and 1258 asymptomatic pregnant women. There was no significant difference in the mean age, gestational age, and body mass index between the two groups. The meta-analysis suggested that pregnant women who were obese (OR:1.37;95%CI:1.15 to 1.62), hypertensive (OR:2.07;95%CI:1.38 to 3.10) or had a respiratory disorder (OR:1.64;95%CI:1.25 to 2.16), were more likely to be symptomatic when infected with SARS-CoV-2. Pregnant women with Black (OR:1.48;95%CI:1.19 to 1.85) or Asian (OR:1.64;95%CI:1.23 to 2.18) ethnicity were more likely to be symptomatic while those with White ethnicity (OR:0.63;95%CI:0.52 to 0.76) were more likely to be asymptomatic. Cesarean-section delivery (OR:1.40;95%CI:1.17 to 1.67) was more likely amongst symptomatic pregnant women. The mean birthweight(g) (MD:240.51;95%CI:188.42 to 293.51), was significantly lower, while the odds of low birthweight (OR:1.85;95%CI:1.06 to 3.24) and preterm birth (< 37 weeks) (OR:2.10;95%CI:1.04 to 4.23) was higher amongst symptomatic pregnant women. Symptomatic pregnant women had a greater requirement for maternal ICU admission (OR:13.25;95%CI:5.60 to 31.34) and mechanical ventilation (OR:15.56;95%CI:2.96 to 81.70) while their neonates had a higher likelihood for Neonatal Intensive Care Unit admission (OR:1.96;95%CI:1.59 to 2.43). The management strategies in the included studies were poorly discussed, hence could not be analyzed. Conclusion The evidence suggests that the presence of risk factors (co-morbidities and ethnicity) increased the likelihood of pregnant women being symptomatic. Higher odds of complications were also observed amongst symptomatic pregnant women. However, more adequately conducted studies with adjusted analysis and parallel comparison groups are required to reach conclusive findings.

Can Iron and Folic Acid-IFA and Ca & Vitamin D Supplementation in Pregnancy be Fitted into Habitual Pattern of Three Meals A Day?

2019 ◽  
Vol 56 (4) ◽  
pp. 341
Author(s):  
Prema Ramachandran ◽  
Amrita Pramanik ◽  
K. Kalaivani
Keyword(s):  
Vitamin D ◽  
Folic Acid ◽  
Side Effects ◽  
Pregnant Women ◽  
Ferrous Sulphate ◽  
Vitamin D Supplementation ◽  
Meal Pattern ◽  
Iron And Folic Acid ◽  
Habitual Pattern ◽  
In Pregnancy

In India prevalence of anaemia and vitamin D deficiency in pregnancy are widespread. National programmes recommend that two tablets of iron and folic acid (IFA) and two tablets of calcium and vitamin D (Ca &amp; Vit D) to be given every day from second trimester till delivery. To minimize the side effects and increase compliance, it is advised that each tablet should be taken after a meal. Most households follow a three meal pattern. A study was taken up to find out how IFA and Ca &amp; Vit D supplementations can be fitted into the habitual three meal pattern. A short term crossover supplementation study was carried out on 38 pregnant women to assess side effects following consumption after lunch of one or two tablets containing 500mg elemental calcium (as calcium carbonate) and 250 IU vitamin D or 60 mg of elemental iron as ferrous sulphate. Prevalence of side effects was higher in women who received iron supplements as compared to Ca &amp; Vit D supplements. Taking two tablets of Ca &amp; Vit D together after meal was associated with significantly higher prevalence of side effects as compared to taking one tablet after meal. Taking two tablets of iron together after meal was not associated with any significant increase in prevalence of side effects as compared to one tablet. Giving two tablets of iron together after one meal and giving one tablet of calcium and vitamin after two meals is feasible option for providing two tablets each of iron and Ca &amp; Vit D to pregnant women who habitually follow a three meal pattern.

Competence of medical and obstetric registrars in the management of systemic lupus erythematosus in pregnancy

2020 ◽  
pp. 1753495X2096467
Author(s):  
Jarrod Zamparini ◽  
Stuart Pattinson ◽  
Kavita Makan
Keyword(s):  
South Africa ◽  
Systemic Lupus Erythematosus ◽  
Pregnant Women ◽  
Lupus Erythematosus ◽  
Pass Rate ◽  
Childbearing Age ◽  
Systemic Lupus ◽  
Significant Difference ◽  
General Physicians ◽  
In Pregnancy

Introduction Systemic lupus erythematosus has a predilection for women of childbearing age. Globally a shortage of rheumatologists exists resulting in general physicians and obstetricians treating systemic lupus erythematosus in pregnancy. Methods We conducted a survey amongst medical and obstetric registrars in South Africa to assess their subjective and objective competence in managing pregnant women with systemic lupus erythematosus. Results The pass rate for the objective section was 70.8% with no statistically significant difference in the pass rate between medical and obstetric registrars. Participants felt unprepared to manage pregnant women with systemic lupus erythematosus, with a mean overall score of 3.4 out of 7 for the subjective section, based on four Likert scale type questions. Conclusion Trainees are not able to accurately assess their own levels of competence in order to identify their learning needs. Due to the shortage of rheumatologists and lack of obstetric physicians in South Africa, general physicians and obstetricians must be equipped to provide adequate care to pregnant women with systemic lupus erythematosus.

scholarly journals Assessment of Folic Acid Supplementation in Pregnant Women by Estimation of Serum Levels of Tetrahydrofolic Acid, Dihydrofolate Reductase, and Homocysteine

Scientifica ◽  
2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Manisha Naithani ◽  
Vartika Saxena ◽  
Anissa Atif Mirza ◽  
Ranjeeta Kumari ◽  
Kapil Sharma ◽  
...  
Keyword(s):  
Folic Acid ◽  
Pregnant Women ◽  
Dihydrofolate Reductase ◽  
Serum Levels ◽  
Folic Acid Supplementation ◽  
North India ◽  
Acid Supplementation ◽  
Folic Acid Supplements ◽  
Significant Difference ◽  
Tetrahydrofolic Acid

Background.Status of folic acid use in pregnant women of the hilly regions in North India was little known. This study was carried out to assess the folic acid use and estimate folate metabolites in pregnant women of this region.Materials and Methods. This cross-sectional study is comprised of 76 pregnant women, whose folic acid supplementation was assessed by a questionnaire and serum levels of homocysteine, tetrahydrofolic acid (THFA), and dihydrofolate reductase (DHFR) were estimated using Enzyme Linked Immunoassays.Results.The study data revealed awareness of folic acid use during pregnancy was present in 46.1% and 23.7% were taking folic acid supplements. The study depicted that there was no statistically significant difference between serum levels of THFA and DHFR in pregnant women with and without folic acid supplements (p=0.790). Hyperhomocysteinemia was present in 15.78% of the participants.Conclusion.Less awareness about folic acid supplementation and low use of folic acid by pregnant women were observed in this region. Sufficient dietary ingestion may suffice for the escalated requirements in pregnancy, but since this cannot be ensured, hence folic acid supplementation should be made as an integral part of education and reproductive health programs for its better metabolic use, growth, and development of fetus.

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