Determination of the frequency of MTHFR C677T and MTHFR A1298C polymorphisms in persons with polymorphic MTHFR gene

Background Neural tube defects (NTDs) are thought to be associated with genetic defects and environmental factors. This study aims to determine the association of MTHFR gene polymorphisms and maternal body mass index (BMI) with anterior encephalocele (AE). Methods Blood samples of 20 patients (out of 41 children) were available for genetic analysis. Genomic DNA was extracted from whole blood samples using Wizard genomic DNA purification kit. The MTHFR C677T and A1298C polymorphisms genotyping protocols were adapted from Cicek et al. Eighty-two age- (1–14 years) and sex-matched apparently healthy children were taken as controls. We assessed the nutritional status of all the volunteers by measuring their BMI and then classified according to WHO BMI cutoff points. Results Nasofrontal AE was seen mostly among the female cases while among males, nasoethmoidal AE was predominant. We observed a weak association between MTHFR 677CT genotype and AE. In the case of MTHFR A1298C, both the 1298AC and 1298CC genotypes increased the risk of acquiring AE by several folds. Multivariate analysis revealed that both 1298AC and 1298CC genotypes increased the risk of acquiring AE. However, only 1298AC was significantly associated with the risk of AE. The study also showed significantly low BMI among the children and their mothers. Conclusion There is a strong association between MTHFR A1298C polymorphism and the risk of anterior encephalocele in this community. The C677T polymorphism, however, did not constitute a genetic risk factor in this study. Children with AE also had significantly low BMI.

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INTERRELATION OF ALLELIC VARIANTS OF HEMOSTASIS SYSTEM GENES ON THE DEVELOPMENT AND COURSE OF LUPUS NEPHRITIS

Nephrology (Saint-Petersburg) ◽

10.24884/1561-6274-2019-23-2-77-81 ◽

2019 ◽

Vol 23 (2) ◽

pp. 77-81

Author(s):

E. N. Borisov ◽

L. V. Ivanitsky ◽

L. M. Samokhodskaya ◽

T. N. Krasnova ◽

E. P. Pavlikova ◽

...

Keyword(s):

Lupus Nephritis ◽

Mutant Allele ◽

Impaired Renal Function ◽

Mthfr C677t ◽

Mthfr Gene ◽

Renal Survival ◽

Mutant Genotype ◽

Hemostatic System ◽

Allelic Variations ◽

Pai 1

THE AIM: to evaluate the effect of allelic variations in the hemostatic system genes on the development and course of lupus nephritis. PATIENTS AND METHODS. The study analyzed 100 patients with SLE Caucasians. 80 women and 20 men aged 16 to 73 years (mean age 37, ± 14 years). The duration of observation was for 73 patients over 5 years, for 18 – from 1 year to 5 years and for 9 – less than 1 year A rise in the level of creatinine in the blood above or equal to 2 mg / dl was considered a significant sign of impaired renal function. RESULTS. Among the patients included in the study, kidney damage was detected in 61 people (61%). In 33 of them (54.1%), a variant of renal pathology was observed according to the type of rapidly progressive lupus nephritis (BPVN). In patients with BH, mutations in the MTHFR (C677T) gene were statistically significantly more frequent (p = 0.033). The OR for the mutant genotype is 6.146 with 95% CI from 1.692 to 22.326. In patients with PWHD, mutations in the MTHFR (C677T) gene were statistically significantly more frequent (p = 0.031). The OR for the mutant genotype is 1.625 with 95% CI from 1.034 to 4.771. The five-year renal survival in carriers of the mutant allele of the MTHFR gene (C677T) is statistically significantly lower (72.8%) than in patients without this mutation (81.9%) (p = 0.027). Ten-year renal survival in carriers of the mutant allele of the MTHFR gene (C677T) is statistically significantly less (55.6%) than in patients without this mutation (70.5%) (p = 0.016). In patients with BH, mutations in the PAI-1 gene (4G / 5G 675) were statistically significantly more frequent (p = 0.046). OR for mutant genotype – 1.766 with 95% CI from 1.061 to 4.758. CONCLUSION. The mutant alleles of the MTHFR (C677T) and PAI-1 (4G / 5G 675) genes are likely to be associated with the development of BH. Polymorphism of the MTHFR gene (C677T) is associated with an unfavorable course of HH.

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

European Journal of Ophthalmology ◽

10.1177/11206721211000647 ◽

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.

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Prevalence of MTHFR C677T and MS A2756G polymorphisms in major depressive disorder, and their impact on response to fluoxetine treatment

CNS Spectrums ◽

10.1017/s1092852912000430 ◽

2012 ◽

Vol 17 (2) ◽

pp. 76-86 ◽

Cited By ~ 11

Author(s):

David Mischoulon ◽

Stefania Lamon-Fava ◽

Jacob Selhub ◽

Judith Katz ◽

George I. Papakostas ◽

...

Keyword(s):

Major Depressive Disorder ◽

Depressive Disorder ◽

Mthfr C677t ◽

Response Rates ◽

Mthfr Gene ◽

Methionine Synthase ◽

Antidepressant Response ◽

Major Depressive ◽

Fluoxetine Treatment ◽

Intent To Treat

AbstractObjectiveTo examine the prevalence of the C677T polymorphism of the methylene tetrahydrofolate reductase (MTHFR) gene and the A2756G polymorphism of methionine synthase (MS), and their impact on antidepressant response.MethodsWe screened 224 subjects (52% female, mean age 39 ± 11 years) with SCID-diagnosed major depressive disorder (MDD), and obtained 194 genetic samples. 49 subjects (49% female, mean age 36 ± 11 years) participated in a 12-week open clinical trial of fluoxetine 20–60 mg/day. Association between clinical response and C677T and A2756G polymorphisms, folate, B12, and homocysteine was examined.ResultsPrevalence of the C677T and A2756G polymorphisms was consistent with previous reports (C/C = 41%, C/T = 47%, T/T = 11%, A/A = 66%, A/G = 29%, G/G = 4%). In the fluoxetine-treated subsample (n = 49), intent-to-treat (ITT) response rates were 47% for C/C subjects and 46% for pooled C/T and T/T subjects (nonsignificant). ITT response rates were 38% for A/A subjects and 60% for A/G subjects (nonsignificant), with no subjects exhibiting the G/G homozygote. Mean baseline plasma B12 was significantly lower in A/G subjects compared to A/A, but folate and homocysteine levels were not affected by genetic status. Plasma folate was negatively associated with treatment response.ConclusionThe C677T and A2756G polymorphisms did not significantly affect antidepressant response. These preliminary findings require replication in larger samples.

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Study of genes involved in angiogenesis and metabolic processes of peripheral blood lymphocytes in patients with chronic endometritis

Perm Medical Journal ◽

10.17816/pmj38425-35 ◽

2021 ◽

Vol 38 (4) ◽

pp. 25-35

Author(s):

E. G. Kobaidze

Keyword(s):

Clinical Manifestations ◽

Mthfr C677t ◽

Peripheral Blood Lymphocytes ◽

Mthfr Gene ◽

Reproductive Period ◽

Enos Gene ◽

Metabolic Processes ◽

Chronic Endometritis ◽

Blood Lymphocytes ◽

Healthy Women

Objective. To study the polymorphisms of the genes involved in angiogenesis and in metabolic processes, to assess the level of lymphocytes in patients with chronic endometritis and practically healthy women of reproductive period. Materials and methods. 86 patients were examined; DNA regions of the genes eNOS 1799983 (Glu298Asp), PPARA (G2528C), ApoE rs429358 (Cys130Arg), MTHFR (C677T, A1298C) were used as primers; blood lymphocytes (CD3+, CD4+, CD8+, CD19+, CD95+) were assessed. Results. Statistically significant differences in gynecological and chronic somatic pathology were obtained in patients with chronic endometritis; they more often than practically healthy women had polymorphisms of the genes ApoE rs429358, eNOS1799983, PPARA (G2528C); patients with chronic endometritis more often had dysregulation of the immune system in the form of insufficiency of the cellular effector link of immunity and changes in the PPARA, ApoE, eNOS gene. Attention was drawn to the obtained relationships of polymorphic genes and clinical manifestations in patients with chronic endometritis, in particular, with a history of non-developing pregnancy in anamnesis, there was more often detected polymorphism of the ApoE gene, with abnormal uterine bleeding polymorphism of PPARA, with chronic inflammatory pathology of the gallbladder polymorphism of the MTHFR gene. Conclusions. The prevalence of polymorphism of the genes eNOS 1799983 (Glu298Asp), PPARA (G2528C), ApoE rs429358 (Cys130Arg), MTHFR (C677T, A1298C) was obtained in patients with chronic endometrial inflammation compared with practically healthy participants in the study. Insufficiency of the cellular effector link of immunity was revealed in the majority of patients with ChE and an association with allele C genotypes G/C and C/C of PPARA 4253778 gene, with allele C genotypes G/C and C/C of ApoE42935 gene, with allele C genotypes G/C and C/C of eNOS 1799983 gene and G/C genotype of MTHFR gene (C677T, A1298C).

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Evaluation of Factor V G1691A, prothrombin G20210A, Factor XIII V34L, MTHFR A1298C, MTHFR C677T and PAI-1 4G/5G genotype frequencies of patients subjected to cardiovascular disease (CVD) panel in south-east region of Turkey

Molecular Biology Reports ◽

10.1007/s11033-014-3231-5 ◽

2014 ◽

Vol 41 (6) ◽

pp. 3671-3676 ◽

Cited By ~ 7

Author(s):

Serdar Oztuzcu ◽

Sercan Ergun ◽

Mustafa Ulaşlı ◽

Gülper Nacarkahya ◽

Yusuf Ziya Iğci ◽

...

Keyword(s):

Cardiovascular Disease ◽

Factor Xiii ◽

Mthfr C677t ◽

Prothrombin G20210a ◽

Factor V ◽

Mthfr A1298c ◽

East Region ◽

Genotype Frequencies ◽

Factor V G1691a ◽

Pai 1

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The Association Between Parameters of Erythrocytes Morphology and Thrombophilia-Related Mutations

Reviews on Recent Clinical Trials ◽

10.2174/1574887116666211123092603 ◽

2021 ◽

Vol 16 ◽

Author(s):

Ozlem Oz ◽

Ataman Gonel

Keyword(s):

Factor V Leiden ◽

Mthfr C677t ◽

Prothrombin G20210a ◽

Factor V ◽

Cross Sectional ◽

Factor V Leiden Mutation ◽

Erythrocyte Morphology ◽

Mthfr A1298c ◽

G20210a Mutation ◽

History Of

Background: Alterations in erythrocyte morphology parameters have been identified and associated with hematological disorders and other chronic and cardiovascular diseases. Erythrocytes are abundant in thrombus content. Their hemoglobin density and differences in the ratio of macrocytic and microcytic cells may be associated with hypercoagulopathy in those with a history of thrombosis. Objective: This cross-sectional study aimed to investigate the relationship between hemogram parameters and thrombophilia genetic parameters. Method: A total of 55 patients whose thrombophilia panel was reviewed due to the diagnosis of thrombosis were included in the study. %MIC, %MAC, %HPO, %HPR and all hemogram parameters were measured using Abbott Alinity HQ. Prothrombin G20210A, MTHFR C677T, MTHFR A1298C, Factor V Leiden G169A and PAI-1 4G/5G mutations were studied using Real Time-PCR. Results: The MTHFR C677T mutation was detected in 58.2% of the patients. The Factor V Leiden mutation was detected in 5.5% of the patients. The MTHFR A1298C mutation was detected in 58.2%, The PAI mutation was detected in 74.5%, and the Factor 13 mutation was detected in 29% of the patients. Prothrombin G20210A mutation was not detected in any of the patients. Red blood cell (RBC) and Hct values were higher in Factor 13 mutant group; the Hgb and Htc values were higher in the MTHFR C677T mutant group. Conclusion: The MTHFR C677T and Factor 13 mutations may be associated with high Hct and RBC, Hgb, and Htc values, respectively and coagulation tendency in patients with a history of thrombosis.

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Association between FVL G1691A, MTHFR C677T and A1298C Polymorphisms with Risk for Retinopathy of PrematurityAssociation between FVL G1691A, MTHFR C677T and A1298C Polymorphisms with Risk for Retinopathy of Prematurity

World Journal of Peri & Neonatology ◽

10.18502/wjpn.v4i1.7540 ◽

2021 ◽

Author(s):

Hamideh Shajari ◽

Mohammadamin Ghadyani ◽

Seyed Hamed Hosseini-Jangjou ◽

Reza Bahrami ◽

Seyed Alireza Dastgheib ◽

...

Keyword(s):

Retinopathy Of Prematurity ◽

Factor V Leiden ◽

Mthfr C677t ◽

Mthfr Gene ◽

Factor V ◽

Background Retinopathy ◽

Increased Risk ◽

Pcr Rflp ◽

Rflp Assay ◽

Preventable Blindness

Background: Retinopathy of prematurity (ROP) is an important cause of preventable blindness in children. The aim of this study was to examine the association of the polymorphisms at Factor V Leiden (FVL) and methylene tetrahydrofolate reductase (MTHFR) gene with risk of ROP. Methods: A total of 106 neonates with ROP and 110 healthy neonates were enrolled. The FVL G1691A and MTHFR C677T and A1298C polymorphisms were genotyped by PCR-RFLP assay. Results: There was a significant association between FVL G1691A polymorphism and an increased risk of ROP. However, the MTHFR C677T and A1298C polymorphisms were not associated with risk of ROP. Conclusion: FVL G1691A polymorphism may be risk factor for development of ROP in neonates. However, there was no significant association between MTHFR C677T and A1298C polymorphisms and risk of ROP. However, it is critical that larger and well-designed studies in different ethnicities are needed to confirm our conclusions.

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