scholarly journals Prevalence of the MTHFR C677T Mutation in Fertile and Infertile Women

2017 ◽  
Vol 39 (12) ◽  
pp. 659-662 ◽  
Author(s):  
Adriana Soligo ◽  
Ricardo Barini ◽  
Joyce Annichino-Bizzacchi
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Control Group ◽  
Case Group ◽  
Infertile Women ◽  
Chi Squared ◽  
History Of ◽  
C677t Mutation ◽  
Fertile Women

Introduction The importance of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in infertile women remains controversial. Objective To evaluate if the MTHFR C677T mutations are more frequent in infertile women, and if they can be associated with the occurrence of infertility in the Brazilian population. Methods This case-control study included 130 infertile women consulting at a private clinic between March 2003 and March 2005 (data previously published), and 260 fertile women attending the family planning outpatient clinic of our institution between April 2012 and March 2013. Data analysis The Chi-squared and Fisher Exact tests were used to evaluate the association between the presence of the MTHFR C677T mutation and a history of infertility. Results The frequency of the mutation was of 58.5% for the case group (n = 76) and of 49.2% for the fertile controls (n = 128). The mutation was homozygous in 13 women in the case group (10%) and in 23 of the fertile women in the control group (8.8%). These differences were not statistically significant. Conclusions These results suggest that the presence of the MTHFR C677T mutation does not constitute a risk factor for infertility, even when the mutation is homozygous. Further studies are needed to confirm whether research on this mutation should be considered unnecessary in women with infertility.

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.

A case-control study investigating the effect of MTHFR C677T variant on performance of elite athletes

2020 ◽  
Vol 20 ◽  
Author(s):  
Ayse Feyda Nursal ◽  
Serbulent Yigit ◽  
Husniye Rustemoglu ◽  
Abdullah Cenikli
Keyword(s):  
Athletic Performance ◽  
Methylenetetrahydrofolate Reductase ◽  
Elite Athletes ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Control Group ◽  
Genotype Distribution ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Strength Of Association

Objective: Increased level of plasma homocysteine (Hcy) is a potential risk factor for several multi-system diseases. The Methylenetetrahydrofolate reductase (MTHFR) gene C677T variant has been established as an important genetic determinant of hyperhomocysteinemia. There are conflicting reports about the effects of physical activity on plasma Hcy. Therefore, the main aim of this study was to investigate whether the MTHFR C677T variant affects the elite athletic performance. Methods: This study was carried out on 214 individuals (114 elite athletes and 100 sedentary controls). Genotyping was performed using PCR- RFLP method. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of association. Results: There was a significant difference between the athletes and the control group in genotype distribution and allele frequency of the MTHFR C677T variant. MTHFR C677T CC genotype and C allele were more prevalent in elite athletes than those in the sedentary controls (p =0.007, OR: 2.16, 95%:1.26-3.70; p=0.009, OR: 1.84, 95%:1.18-2.89, respectively). The control group had a higher MTHFR C677T CT genotype than the athletes had (p=0.019, OR: 0.51, 95%:0.30-0.88). There was no deviation from HWE for the MTHFR C677T variant in the groups. Conclusion: Our findings support that there is an association between the MTHFR C677T C allele and athletic performance among the elite Turkish athletes.

The comparison of mental health in fertile and infertile women

2011 ◽  
Vol 26 (S2) ◽  
pp. 1666-1666 ◽  
Author(s):  
H. Jamilian ◽  
M. Jamilian ◽  
F. Doroodgar Hezaveh
Keyword(s):  
Mental Health ◽  
Case Control Study ◽  
Somatic Complaints ◽  
Control Group ◽  
Case Group ◽  
Family Function ◽  
Infertile Women ◽  
Mental Disturbances ◽  
Control Study ◽  
Fertile Women

IntroductionInfertility affects life of couples and family function. Infertility can cause mental disturbances in some studies.AimsThe goal of this study was the comparison of mental health in fertile and infertile women.MethodsA case-control study was done in Arak-Iran, Taleghani hospital which is a center of Gynecology, in 2010. 60 infertile women as case group and 60 fertile women as control group participated in the study, randomly. Both groups were assessed by GHQ questionnaire and data were analyzed by T-Test and logistic regression.ResultsThe severity of mental disturbances were much more in infertile women (P < 0.001). Social dysfunction (P < 0.001) and somatic complaints (P < 0.001) were also higher in infertile women. The probability of mental disturbances was much higher in infertile women (P < 0.001 and OR = 5.57).ConclusionMental health of infertile women is very critical and disturbed. The findings of our study necessitate the multidimensional interventions in the treatment of infertility.

scholarly journals Polymorphism study of MTHFR 677C?T and its correlation with oxidative stress and their influence on female infertility in Erbil – Iraq

2017 ◽  
Vol 14 (3) ◽  
pp. 611-618
Author(s):  
Baghdad Science Journal
Keyword(s):  
Oxidative Stress ◽  
Methylenetetrahydrofolate Reductase ◽  
Group Living ◽  
Thyroid Stimulating Hormone ◽  
Female Infertility ◽  
Control Group ◽  
Sod Activity ◽  
Infertile Women ◽  
Fertile Women ◽  
Prolactin Hormone

This research includes a study of Methylenetetrahydrofolate reductase gene’s allele 677C?T and its correlation with oxidative stress and their impact on female infertility. Fifty infertile women with the range age (23-42) years and twenty five fertile women with the range age (22-39) years as control group living in Erbil city were selected. The serum level of Malondialdehyde (MDA), superoxide dismutase (SOD), prolactin hormone (PRL), Luteinizing hormone (LH), Thyroid stimulating hormone (TSH), Triiodothyronine hormone (T3), and Thyroxine hormone (T4) were measured, also a body mass index (BMI) was calculated. A restriction enzyme (Hinf1) was used to improve the mutation in DNA bands of infertile women. The results showed significant increases in MDA level, SOD activity, BMI, PRL, LH, TSH, and T4 in patients women compared with the control group. The results show non-significant differences in T3 hormone levels. The results also show a mutation in DNA bands of infertile women compared with fertile control group.

scholarly journals Association of anticardiolipin antibody and C677T in methylenetetrahydrofolate reductase mutation in women with recurrent spontaneous abortions: a new path to thrombophilia?

2005 ◽  
Vol 123 (1) ◽  
pp. 15-20 ◽  
Author(s):  
Egle Couto ◽  
Ricardo Barini ◽  
Renata Zaccaria ◽  
Joyce Maria Annicchino-Bizzacchi ◽  
Renato Passini Junior ◽  
...  
Keyword(s):  
Spontaneous Abortion ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Anticardiolipin Antibody ◽  
Mthfr Gene ◽  
Recurrent Spontaneous Abortion ◽  
Enzyme Linked Immunosorbent Assay ◽  
Inherited Thrombophilia ◽  
C677t Mutation ◽  
Fertile Women

CONTEXT: Recurrent spontaneous abortion (RSA) has been associated with venous thrombosis in the mother. Acquired and inherited thrombophilia factors are possible causes. OBJECTIVE: To evaluate the association between thrombogenic factors and recurrent spontaneous abortion. TYPE OF STUDY: Case-control study. SETTING: Centro de Atenção Integral à Saúde da Mulher, Universidade Estadual de Campinas. METHODS: 40 ml of blood was collected from 88 women attending an RSA clinic and 88 fertile women attending a family planning clinic, to evaluate the presence of acquired and inherited thrombophilia factors. Anticardiolipin antibodies (ACA), lupus anticoagulant and deficiencies of proteins C and S and antithrombin III were evaluated by enzyme-linked immunosorbent assay (ELISA), dilute Russell Viper Venom time (dRVVT), coagulometric and chromogenic methods. DNA was amplified by the polymerase chain reaction (PCR) to study factor V Leiden and G20210A mutations in the prothrombin gene and C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene. Data were analyzed using odds ratios and a regression model for age adjustment. Fisher’s exact test was used to evaluate statistical relationships between associated factors and RSA. RESULTS: ACA was detected in 11 women with RSA and one fertile woman. Heterozygous C677T was detected in 59 women with RSA and 35 fertile women. Concomitant presence of ACA and C677T was found in eight women with RSA and no fertile women (p < 0.01). DISCUSSION: The meaning of the association between C677T mutation in the MTHFR gene and ACA is still not clear. It is possible that an inherited factor that alone would not strongly predispose a woman to thrombosis could, when associated with an acquired factor, start the process and increase the likelihood of thrombosis expression. CONCLUSIONS: ACA and C677T in the MTHFR gene are statistically associated with RSA. The association of these two conditions is a new finding in thrombogenic factors and RSA.

C677T Methylenetetrahydrofolate Reductase and Plasma Homocysteine Levels among Thai Vegans and Omnivores

2013 ◽  
Vol 83 (2) ◽  
pp. 86-91 ◽  
Author(s):  
Saowanee Kajanachumpol ◽  
Kalayanee Atamasirikul ◽  
Phieuvit Tantibhedhyangkul
Keyword(s):  
Vitamin B12 ◽  
Methylenetetrahydrofolate Reductase ◽  
Vitamin B12 Deficiency ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Serum Folate ◽  
Geometric Means ◽  
C677t Mutation ◽  
B12 Deficiency ◽  
Mthfr Mutation

Hyperhomocysteinemia among vegetarians and vegans is caused mostly by vitamin B12 deficiency. A C-to-T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene results in a thermolabile MTHFR, which may affect homocysteine (Hcy) levels. The importance of this gene mutation among populations depends on the T allele frequency. Blood Hcy, vitamin B12, folate, vitamin B6, and MTHFR C677T mutation status were determined in 109 vegans and 86 omnivores aged 30 - 50 years. The vegans had significantly higher Hcy levels than the omnivores, geometric means (95 % CI) 19.2 (17.0 - 21.7) µmol/L vs. 8.53 (8.12 - 8.95) µmol/L, p < 0.001. A C-to-T mutation in the vegans increased plasma Hcy, albeit insignificantly; geometric means 18.2 µmol/L, 20.4 µmol/L, and 30.0 µmol/L respectively in CC, CT, and TT MTHFR genotypes. There was also a significant decrease in serum folate; geometric means 12.1 ng/mL, 9.33 ng/mL, and 7.20 ng/mL respectively, in the CC, CT, and TT mutants, p = 0.006, and particularly, in the TT mutant compared with the CC wild type, 7.20 ng/mL vs. 12.1 ng/mL, p = 0.023. These findings were not seen in the omnivores. It was concluded that hyperhomocysteinemia is prevalent among Thai vegans due to vitamin B12 deficiency. C-to-T MTHFR mutation contributes only modestly to the hyperhomocysteinemia.

scholarly journals Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients

2008 ◽  
Vol 52 (8) ◽  
pp. 1374-1381 ◽  
Author(s):  
Kelly Cristina de Oliveira ◽  
Bianca Bianco ◽  
Ieda T. N. Verreschi ◽  
Alexis Dourado Guedes ◽  
Bianca Borsato Galera ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Turner Syndrome ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Control Group ◽  
Dna Hypomethylation ◽  
Chromosome Mosaicism ◽  
Chromosomal Aneuploidy ◽  
Mthfr Gene Polymorphism ◽  
History Of

BACKGROUND: Dysfunctions in the folate metabolism can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of this enzyme (C677T and A1298C) reduce its activity, but when associated with aneuploidy studies the results are conflicting. The objective of the present study is to analyze the MTHFR gene polymorphisms in women with Turner Syndrome and in a control group, correlating the findings to the chromosomal aneuploidy. METHODS: The study comprised 140 patients with Turner Syndrome, of which 36 with chromosome mosaicism and 104 non-mosaics, and a control group of 209 fertile and healthy women without a history of any offspring with aneuploidy. Polymorphisms C677T and A1298C were studied by RFLP-PCR and the results were statistically analyzed. RESULTS: The frequency of genotypes MTHFR 677CC, 677CT and 677TT in the patients with Turner Syndrome and chromosome mosaicism was, respectively, 58.3%, 38.9% and 2.8%. Among the patients with non-mosaic Turner Syndrome, 47.1% presented genotype 677CC, 45.2% genotype 677CT, and 7.7% genotype 677TT. Among the 209 individuals of the control group, genotypes 677CC, 677CT and 677TT were found at the following frequencies: 48.3%, 42.1% and 9.6%, respectively. As for polymorphism A1298C, the patients with Turner Syndrome and chromosome mosaicism presented genotypes 1298AA, 1298AC and 1298CC at the following frequencies: 58.3%, 27.8% and 13.9%, respectively. Among the non-mosaic Turner Syndrome patients, genotype 1298AA was found in 36.5%, genotype 1298AC in 39.4%, and genotype 1298CC in 22.1%. In the control group, genotypes 1298AA, 1298AC and 1298CC were present at the following frequencies: 52.6%, 40.7% and 6.7%, respectively. CONCLUSION: No correlation was observed between the MTHFR gene polymorphism 677 and chromosomal aneuploidy in the Turner Syndrome patients. However, the MTHFR gene polymorphism at position 1298, mainly genotype 1298CC that reduces the enzyme efficiency, was more frequent in the group of Turner Syndrome patients, suggesting its involvement in mechanisms related to chromosomal imbalances.

scholarly journals Methylenetetrahydrofolate Reductase (MTHFR) C677T and A1298C Polymorphisms in Georgian Females with Hypothyroidism

2020 ◽  
Vol 07 (02) ◽  
pp. 047-050
Author(s):  
Tamar Kvaratskhelia ◽  
Elene Abzianidze ◽  
Ketevan Asatiani ◽  
Merab Kvintradze ◽  
Sandro Surmava ◽  
...  
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Fragment Length Polymorphism ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Control Group ◽  
Healthy Individuals ◽  
Chain Reaction ◽  
Mthfr Polymorphisms ◽  
Polymerase Chain ◽  
Hypothyroid Patients

AbstractThe aim of this study was to investigate the frequency of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms in Georgian females with hypothyroidism. Thirty-four patients and 29 healthy individuals were recruited in this study. Polymerase chain reaction-restriction fragment length polymorphism analyses were used for genotyping of MTHFR polymorphisms. The results of this study suggest that the MTHFR C677T variant was significantly associated with hypothyroidism. In addition, in individuals with T allele risk of hypothyroidism significantly increased. Combination of CT/AA genotypes was more prevalent in the hypothyroid patients than in the control group. Thus, C677T polymorphism could be a possible genetic factor contributing to the pathophysiology of hypothyroidism, possibly through hyperhomocysteinemia.

scholarly journals Assessment of cervical cytomorphological changes in infertile women undergoing IVF/ICSI

2019 ◽  
Vol 7 (4) ◽  
pp. 235-253
Author(s):  
Ban Qasim ◽  
Estabraq AR-al wasiti
Keyword(s):  
Pap Smear ◽  
Control Group ◽  
P Value ◽  
Case Group ◽  
Pregnancy Test ◽  
Infertile Women ◽  
Significant Difference ◽  
Negative Pregnancy Test ◽  
The Mean ◽  
Fertile Women

The aim of this study is to assess cervical cytomormophological changes in cervical smears taken from infertile women undergoing IVF/ICSI compared with normal fertile women. A case-control study of 100 cases were included, 50 infertile group and 50 normal fertile control group both in age range between (20-44), Pap smear taken prior to ova pickup in case group and in preovulatory day in control group. The mean age for case group was 28.9 ±5.6 year; and the mean age of control group was 29.7 ±5.5 years with no significant difference between them t=1.99, p=0.5, the most frequent cause of infertility is polycystic ovaries or with polycystic ovarian syndrome which diagnosed in (36%) of patients then (28%) of patients diagnosed with unexplained infertility. Case group has (22%) diagnosed with atypical squamous cells with undetermined significance (ASC-US) while control group has just 1 case (2%) with ASC-US and this affects pregnancy test result since (18%) out of (22%) of patient with (ASC-US) pap smear report has negative pregnancy test. Statistical analysis shows significant correlation between positive cervicitis and negative pregnancy test (P value = 0.04) because (52%) out of (66%) with positive cervicitis has negative pregnancy test.beside a significant relation between positive infection in pap smear report and negative pregnancy test because (30%) out of (34%) with positive infection in pap smear has negative pregnancy test. In Conclusions, infertile women eligible for IVF are more probable to have ASC-US when compared with normal fertile women, ASC-US worsen pregnancy test results in women undergoing IVF/ICSI because (18%) out of (22%) of patient with (ASC-US) have negative pregnancy test.

scholarly journals Individualized Folic Acid Supplementation based on Polymorphisms of Methylenetetrahydrofolate Reductase (MTHFR) and Methionine Synthase Reductase (MTRR), Compared with Traditional Folic Acid Supplementation, Reduces Gestational Diabetes Mellitus

2022 ◽  
Author(s):  
Xiaoying Yu ◽  
Le Diao ◽  
Baoying Du ◽  
Ying Wang ◽  
Xiaoqin Xv ◽  
...  
Keyword(s):  
Folic Acid ◽  
Gestational Diabetes ◽  
Pregnant Women ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr C677t ◽  
Allele Frequencies ◽  
Control Group ◽  
Case Group ◽  
Methionine Synthase Reductase ◽  
Mtrr A66g

Abstract Backgroud: Folic Acid (FA) may contribute to the development of gestational diabetes mellitus (GDM), but existing studies are inconsistent. We examined the genotype distributions and allele frequencies of methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine synthase reductase (MTRR) A66G polymorphisms of pregnant women in China, and compared the effects of individualized folate supplementation and traditional FA supplementation on GDM.Methods: The genotype distributions and allele frequencies of MTHFR C677T, A1298C and MTRR A66G polymorphisms in 968 pregnant women (case group) were tested. FA metabolism was ranked at four levels, and then pregnant women of different levels are supplemented with different doses of FA at different periods. The case group was followed up for pregnancy complications and compared with 1,940 pregnant women traditionally supplemented with FA in the same hospital (control group).Results: The allele frequencies of MTHFR C677T were 63.3% (C) and 36.7% (T), those of MTHFR A1298C were 79.3% (A) and 20.7% (C), and those of MTRR A66G were 75.0% (A) and 25.0% (G). Compared with control group, the incidence of GDM in the case group were significantly lower, especially in high-risk pregnant women after FA supplementation.Conclusion: Traditional FA supplementation based on personal habits is controversial, but the use of polymorphisms of genes to clarify the FA metabolism of pregnant women, appropriate, timely and accurate supplementation of FA can effectively reduce gestational diabetes, especially for high-risk pregnant women.

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