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.

Genetic Polymorphisms of Methylenetetrahydrofolate Reductase Genes and Diffuse Large B-Cell Lymphoma Risk in Middle Eastern Population.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4609-4609
Author(s):  
Abdul K. Siraj ◽  
Rong Bu ◽  
Mona Ibrahim ◽  
Maha Al-Rasheed ◽  
Shahab Uddin ◽  
...  
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Case Control Study ◽  
B Cell Lymphoma ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Control Group ◽  
Mthfr Polymorphisms ◽  
Activity Group ◽  
Large B Cell Lymphoma ◽  
Control Study

Abstract Diffuse large B-Cell Lymphoma (DLBCL) is one of the most common non-Hodgkin lymphoma types and increased incidence has also been reported during the past 30 years. Methylenetetrahydrofolate (MTHFR) balances the pool of folate coenzymes in one carbon metabolism of DNA synthesis and methylation, both are implicated in carcinogenesis of many types of cancer including lymphoma. Two common variants in the MTHFR gene (C677T and A1298C) have been associated with reduced enzyme activity, thereby making MTHFR polymorphisms a potential candidate caner predisposing factor. These genetic differences are highly race specific and have never been screened in the Saudi DLBCL patients. We conducted hospital-based case control study in the Saudi DLBCL patients. To evaluate the MTHFR C677T and A1298C functional polymorphisms in the MTHFR gene and their association with Saudi DLBCL risk. A hospital based case control study was conducted on a Saudi population- which is known for their genetic homogeneity and high consanguinity- consisting of 187 histologically confirmed DLBCL cases and 513 Saudi controls without a history of cancer. A PCR-RFLP method was used for MTHFR polymorphism genotyping. Data showed that Saudi individuals carrying MTHFR 1298 CC genotype (p<0.001) and genotypes carrying MTHFR 1298C allele (p= 0.012) had 4.23 and 1.73-fold higher risk of developing DLBCL, respectively. Additionally, combined genotype CCCC (MTHFR 677CC+ MTHFR 1298CC) among intermediate MTHFR activity group was associated with 3.489 fold and CTCC (MTHFR 677 CT + 1298CC) among low MTHFR activity group was related to 9.515 fold higher risk, compared with full MTHFR enzyme activity. Our findings suggest that polymorphisms of MTHFR enzyme genes support for the important role of folate metabolism in lymphomagenesis and may be associated with the individual susceptibility to develop DLBCL in Saudi Arabian population. Table 1 Distribution of MTHFR polymorphisms in healthy population and lymphoma patients. Polymorphism Genotype Control group Lymphoma patients p -Methylenetetrahydrofolate reductase (MTHFR) MTHFR C677T CC 372 (72.8%) 109 (68.1%) CT 126 (24.7%) 45 (28.1%) 0.346 1.219 TT 13 (2.5%) 6 (3.8%) 0.404 1.575 CT+TT 139 (27.2%) 51 (31.9%) 0.269 1.252 MTHFR A1298C AA 239 (46.8%) 38 (33.6%) AC 220 (43.1%) 40 (35.4%) 0.625 1.144 CC 52 (10.2%) 35 (31%) <0.001 4.233 AC+CC 272 (53.2%) 75 (66.4%) 0.012 1.734 Table 2 Distribution of combined C677T and A1298C MTHFR genotypes in case and control group. Genotype Control Case p OR ND=Not detected Full Activity group CCAA 157 (30.8%) 22 (27.8%) Intermediate Activity group CCAC 169 (33.2%) 28 (35.4%) 0.649 1.182 CCCC 45 (8.8%) 22 (27.8%) <0.001 3.489 CTAA 69 (13.6%) 13 (16.5%) 0.439 1.345 TOTAL 283 63 0.104 1.589 Low Activity Group CTAC 50 (9.8%) 5 (6.3%) 0.634 0.714 CTCC 6 (1.2%) 8 (10.1%) <0.001 9.515 TTAA 12 (2.4%) 1 (1.3%) 1 0.595 TTAC 0 2 (2.5%) 0.017 ND TTCC 1 (0.2%) - - - TOTAL 69 16 0.189 1.655 Intermediate + Low 352 (69.1%) 79 0.073 1.602

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 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.

scholarly journals ARG16GLY POLYMORPHISM IN THE Β2-ADRENOCEPTOR GENE IN PATIENTS WITH BRONCHIAL ASTHMA

2021 ◽  
Vol 74 (5) ◽  
pp. 1200-1203
Author(s):  
Vladyslava V. Kachkovska ◽  
Anna V. Kovchun ◽  
Iryna O. Moyseyenko ◽  
Iryna O. Dudchenko ◽  
Lyudmyla N. Prystupa
Keyword(s):  
Bronchial Asthma ◽  
Fragment Length Polymorphism ◽  
Control Group ◽  
Polymorphism Analysis ◽  
Healthy Individuals ◽  
Significant Difference ◽  
Polymorphic Variants ◽  
Polymerase Chain ◽  
Arg16gly Polymorphism ◽  
Apparently Healthy

The aim: The objective of the study was to analyze the frequency of Arg16Gly polymorphism in the β2 -adrenoceptor (β2 -АR) gene in patients with bronchial asthma (BA) and to assess the association of the polymorphism with BA risk. Materials and methods: We examined 553 BA patients and 95 apparently healthy individuals. Arg16Gly polymorphism in the β2 -АR gene (rs1042713) was determined using polymerase chain reaction-restriction fragment length polymorphism analysis. Statistical analysis of obtained results was performed using SPSS–17 program. Results: It was established that distribution of Arg/Arg, Arg/Gly, and Gly/Gly genotypes for Arg16Gly polymorphism in the β2 -АR gene was 44.2%, 40.0%, 15.8% in the control group vs. 31.3%; 45.7% and 23.0 among BA patients, respectively (χ2 = 6.59; р = 0.037). No significant difference was observed with regards to the distribution of genotypes for Arg16Gly polymorphism in the β2 -АR gene in men and women controls (χ2 = 4.05; р = 0.13) and BA patients (χ2 = 4.34; р = 0.11). BA risk was 1.74 times higher in the minor allele carriers (Arg/Gly + Gly/Gly genotypes) for Arg16Gly polymorphism in the β2 -АR gene. Conclusions: Analysis of Arg16Gly polymorphic variants in the β2-AR gene showed a statistically significant difference in the distribution of Arg/Arg, Arg/Gly, and Gly/Gly genotypes in patients with BA and apparently healthy individuals due to the higher frequency of Arg/Arg genotype in controls and higher frequency of Gly/Gly genotype in patients with asthma. No difference with regard to gender was found in the distribution of genotypes.

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.

Identification of nucleotide polymorphism within the NeuroD1 candidate gene and its association with type 1 diabetes susceptibility in Iranian people by polymerase chain reaction-restriction fragment length polymorphism

2020 ◽  
Vol 33 (10) ◽  
pp. 1293-1297
Author(s):  
Maryam Soltani asl ◽  
Parviz Azimnasab-sorkhabi ◽  
Ali-Akbar Abolfathi ◽  
Yashar Hashemi aghdam
Keyword(s):  
Type 1 Diabetes ◽  
Fragment Length Polymorphism ◽  
Control Group ◽  
Diabetic Patients ◽  
Chain Reaction ◽  
Diabetes Susceptibility ◽  
Healthy Control ◽  
Polymerase Chain ◽  
Restriction Fragment Length

AbstractObjectivesDiabetes is a serious disease, and the number of affected individuals with diabetes is considerably high. The aim of this study is the identification of NeuroD1 Ala45Thr polymorphism and its association with type 1 diabetes susceptibility in Iranian people.MethodsClinical and biochemical characteristics for 146 people (76 diabetics and 70 nondiabetics) were measured, such as fasting blood sugar, triacylglycerol, total cholesterol, age, and weight in each individual. Polymerase chain reaction-restriction fragment length polymorphism technique (MwoI restriction-enzyme) was used for genotyping of the NeuroD1 Ala45Thr polymorphism.ResultsIn this study, the frequency of the A allele in diabetic patients in comparison with the healthy control group had a significantly higher percentage (p < 0.01), whereas diabetic patients had the AA genotype, approximately four times more than the healthy control group (p < 0.01). In addition, we observed that fasting blood sugar had a higher concentration in the AA genotype than in AG + GG genotypes (p < 0.01).ConclusionsThe A allele may be a risk factor for the expansion of type 1 diabetes in the Iranian population. However, the NeuroD1 Ala45Thr polymorphism and its role in type 1 diabetes in different populations are controversial.

Study about the Relationship between TNF-Α-308G/A and Essential Hypertension in Specific Population-Taking Chinese Minority Zhuang in Guangxi as an Example

2013 ◽  
Vol 749 ◽  
pp. 149-153
Author(s):  
Xing Shou Pan ◽  
Ke Xing Lu ◽  
Tian Zi Li
Keyword(s):  
Essential Hypertension ◽  
Fragment Length Polymorphism ◽  
Control Group ◽  
Chain Reaction ◽  
Specific Population ◽  
Tnf Α ◽  
Polymerase Chain ◽  
Object Of Study ◽  
Tnf Gene ◽  
The Relationship

objective: study the association between TNF gene and essential hypertension (EH) in Chinese minority Zhuang population. Method: select 170 normal as control group and 246 patients with EH as an object of study, use polymerase chain reaction - restriction fragment length polymorphism method to analyze polymorphic loci in the promoter region of TNF-α gene-308G / A allele, and genotype frequency distribution characteristics were analyzed, and the relationship between genetic susceptibility polymorphisms and EH was given.

scholarly journals Association of Genetic Variation in Calmodulin and Left Ventricular Mass in Full-Term Newborns

2013 ◽  
Vol 2013 ◽  
pp. 1-7
Author(s):  
Iwona Gorący ◽  
Jarosław Gorący ◽  
Karolina Skonieczna-Żydecka ◽  
Mariusz Kaczmarczyk ◽  
Grażyna Dawid ◽  
...  
Keyword(s):  
Left Ventricular Mass ◽  
Fragment Length Polymorphism ◽  
Left Ventricular ◽  
Two Dimensional ◽  
Healthy Individuals ◽  
Chain Reaction ◽  
Ventricular Mass ◽  
Term Newborns ◽  
Polymerase Chain ◽  
Restriction Fragment Length

Calmodulin II (CALM2) gene polymorphism might be responsible for the variation in the left ventricular mass amongst healthy individuals. The aim was to evaluate the correlation between left ventricular mass (LVM) and g.474955027G>A (rs7565161) polymorphism adjacent to theCALM2gene. Healthy Polish newborns (n= 206) were recruited. Two-dimensional M-mode echocardiography was used to assess LVM. Polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism and sequencing analyses. The carriers of the G allele of theCALM2polymorphism had significantly higher left ventricular mass/weight (LVM/BW) values, when compared with newborns homozygous for the A allele (3.1 g/m2versus 2.5 g/m2,Padjusted= 0.036). The AG genotype ofCALM2was associated with the highest values of LVM/BW, exhibiting a pattern of overdominance (2.9 g/kg versus 3.1 g/kg versus 2.5 g/kg,Padjusted= 0.037). The results of this study suggest that G>ACALM2polymorphism may account for subtle variation in LVM at birth.

Higher incidence of C677T polymorphism of the MTHFR gene in North Indian patients with vascular disease

Vascular ◽  
2012 ◽  
Vol 20 (2) ◽  
pp. 88-95 ◽  
Author(s):  
S Bhargava ◽  
A Ali ◽  
R Parakh ◽  
R Saxena ◽  
L M Srivastava
Keyword(s):  
Vascular Disease ◽  
Preventive Measures ◽  
Mthfr C677t ◽  
Polymerase Chain Reaction Analysis ◽  
Mthfr Gene ◽  
Chain Reaction ◽  
The North ◽  
Chemiluminescent Immunoassay ◽  
Polymerase Chain ◽  
Sulfur Containing

Homocysteine is a sulfur-containing amino acid, which is derived from dietary methionine. Hyperhomocysteinemia has been implicated in vascular disease for over a decade now, and can be treated with B vitamins. Among its causes is polymorphism of the MTHFR gene, the most common being the cytidine to thymidine at position 677 (MTHFR C677T), which gives rise to three genotypes – normal homozygous CC, heterozygous CT and homozygous variant TT. An attempt was made to ascertain the prevalence of this MTHFR C677T in our population so that preventive measures may accordingly be instituted. Blood samples from 70 patients with vascular disease and 70 healthy controls were analyzed for plasma homocysteine levels (chemiluminescent immunoassay) and for the presence of MTHFR C677T (polymerase chain reaction analysis). Homocysteine was higher in the homozygous subjects (TT genotype) than in the heterozygous (CT genotype). In patients, the frequency of the C allele was significantly lower, and that of the T allele was significantly higher than the corresponding frequencies in controls. In conclusion, the North Indian urban population has higher homocysteine levels associated with the TT genotype. Hence, instituting measures towards reduction of homocysteine levels in the population would probably reduce the incidence and morbidity of vascular disease in our population.

Mthfr Allele Distribution in Romanian Schizophrenia Patients

2017 ◽  
Vol 41 (S1) ◽  
pp. S168-S168
Author(s):  
B. Nemes ◽  
D. Cozman
Keyword(s):  
Reversed Phase ◽  
Mthfr Gene ◽  
Control Group ◽  
Healthy Controls ◽  
Chain Reaction ◽  
Allele Distribution ◽  
Exact Test ◽  
Mthfr Genotype ◽  
Polymerase Chain ◽  
Competing Interest

IntroductionCurrently available data on the aetiology of schizophrenia suggests a major involvement of epigenetic mechanisms. One such mechanism could be the alteration of activation and silencing of genes, which involves DNA methylation and de-methylation. The main limiting enzyme involved in the methyl-donor cycle is methylene-tetra-hydro-folate-reductase (MTHFR), and the most frequently observed mutation in the MTHFR gene, altering its activity, is the C677 T mutation.AimIn the present study, we investigated the frequency of MTHFR C677 T mutation and total plasma homocysteine (tHcy) concentrations in a sample of Romanian schizophrenia patients as compared to healthy controls.MethodsSeventy schizophrenia patients (35% females) with a mean age of 38.8 ± 20.5 years and 50 healthy controls (50% females) with a mean age of 36.3 ± 11.6 years were included. MTHFR genotype was determined through polymerase chain reaction and tHcy levels were determined through reversed phase high-pressure liquid chromatography.ResultsSchizophrenia patients, registered higher frequency of the T allele, with the CC genotype observed in 39.4% of them, as compared to a frequency of 60.6% in the control group (P = 0.002–Fisher's exact test). tHcy concentrations did not differ between the two groups (10.7 ± 4.2 vs. 11.2 ± 4.1, P > 0.005–Mann–Whitney U test).ConclusionsRomanian schizophrenia patients have a significantly higher frequency of the MTHFR C677 T mutation, but without significant effect on tHcy concentrations.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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