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.

CAT-21 A/T Gene Polymorphisms Associated with Breast Cancer Susceptibility

2021 ◽  
Vol 32 (2) ◽  
pp. 79-84
Author(s):  
Kevin Owen ◽  
Siti Syarifah ◽  
Mutiara Indah Sari
Keyword(s):  
Breast Cancer ◽  
Oxidative Stress ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Healthy Control Group ◽  
Control Group ◽  
Genotype Distribution ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Healthy Control

Background: Oxidative stress induced cancer cell formation. Gene polymorphism plays roles in carcinogen metabolism, antioxidant and DNA repairing pathway was susceptibility to oxidative stress. This study aim to determine the association between CAT-21 A/T polymorphism with breast cancer susceptibility. Methods: Case control study was conducted on 65 breast cancer patient and 65 healthy control group. The whole blood samples were isolated from 65 breast cancer patients in Haji Adam Malik General Hospital Medan and 65 healthy control group. The CAT-21A/T polymorphism was analyzed by PCR-RFLP procedure. PCR-RFLP product was electrophoresed and visualized in agarose 4%. Results:The AA CAT-21 genotype were lower in breast cancer (BC) than healthy control (HC) group (31/47.7% vs 40/61.5%), in the contrary AT+TT genotype was greater in BC than HC group (34/52.3% vs 25/38.5%) with (p=0.159, OR=1.755, CI=0.874–3.525). A allele CAT-21 were found lower in BC than HC group (89/68.5% vs 105/80.8%) then T allele were greater in BC than HC group (41/31.5% vs 25/19.2%) with (p=0.033, OR=1.935;CI=1.022-3.428). Conclusions: There was significant difference in allele distribution of CAT-21 A/T between case and control group but no in genotype distribution. In this population study showed that allele of CAT -21 A/T polymorphism could represent as a risk factor to breast cancer. Bangladesh J Medicine July 2021; 32(2) : 79-84

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.

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 METHYLENETETRAHYDROFOLATE REDUCTASE C677T GENE POLYMORPHISM AND PROSTATE CANCER RISK

2018 ◽  
Vol 11 (5) ◽  
pp. 387
Author(s):  
Samah Tellouche-bouhouhou ◽  
Djalila Chellat-rezgoune ◽  
Noureddine Abadi ◽  
Dalila Satta ◽  
Abderrezak Dahdouh
Keyword(s):  
Prostate Cancer ◽  
Methylenetetrahydrofolate Reductase ◽  
Cancer Susceptibility ◽  
Prostate Cancer Risk ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Single Nucleotide ◽  
Mthfr C677t Polymorphism ◽  
Increased Risk ◽  
Significant Difference

Objective: The single nucleotide polymorphism C677T of the methylenetetrahydrofolate reductase (MTHFR) gene encodes a thermolabile enzyme. This polymorphism was found to be implicated in cancer susceptibility. In this study, we analyzed the distribution of the MTHFR C677T polymorphism in two cohorts; patients and controls native of East of Algeria to explore the possible association between this polymorphism and prostate cancer susceptibility.Methods: Our examination has been conducted in 98 cases and 98 healthy controls. Genotyping was realized by polymerase chain reaction-restriction fragment length polymorphism method.Results: Compared with CC homozygous, the CT heterozygous was found to have a significantly increased risk of prostate cancer (p=0.04; odds ratio [OR]=2.01, 95% confidence interval [CI]: 1.02–3.95). However, no statistically significant difference was observed concerning the TT homozygous (p=0.74; OR=1.25, 95% CI: 0.51–3.04).Conclusion: Our results indicate that the genotype CT is a risk factor for prostate cancer in East of Algeria.

scholarly journals Effect of Methylenetetrahydrofolate Reductase (MTHFR) gene mutations and oxidative stress in silent brain infarction

2021 ◽  
Author(s):  
Pınar Aslan Koşar ◽  
Muhammet Yusuf Tepebaşı ◽  
Nihat Şengeze ◽  
İlter İlhan ◽  
Halil İbrahim Büyükbayram ◽  
...  
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Brain Infarction ◽  
Gene Mutations ◽  
White Matter Lesions ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Total Thiol ◽  
Significant Difference ◽  
Silent Brain Infarction ◽  
Fazekas Scale

Abstract Ischemic infarctions occur under the influence of genetic and environmental factors. In our study, the role of ischemia-modified albumin and thiol balance, which are new markers in determining oxidative damage together with MTHFR gene mutations and homocysteine levels, in the development of SBI was investigated. White matter lesions in the magnetic resonance imaging (MRI) results of the patients were evaluated according to the Fazekas scale and divided into groups (Grade 0, 1, 2, and 3). Homocysteine, folate, B12, IMA, total thiol, and native thiol were measured by biochemical methods. The mutations in MTHFR genes were investigated by the RT-PCR method. According to our results, a significant difference was found between the groups in age, homocysteine, folate, IMA, total thiol, and native thiol parameters (p<0.05). When we compared the groups in terms of genotypes of the C677T gene, we found a significant difference in TT genotype between grades 0/3 and 1/3 (p<0.05). We determined that homocysteine and IMA levels increased and folate levels decreased in CC/TT and CT/TT genotypes in the C677T gene (p<0.05). Considering our results, the observation of homocysteine and IMA changes at the genotype level of the MTHFR C677T gene and between the groups, and the deterioration of thiol balance between the groups suggested that these markers can be used in the diagnosis of silent brain infarction.

scholarly journals Loci C677T and A1298C of the methylenetetrahydrofolate reductase gene and the risk of neural tube defects in the Kyrgyz population

2019 ◽  
pp. 3-8
Author(s):  
Н.М. Алдашева ◽  
Э.М. Мамбетсадыкова ◽  
Э.Т. Талайбекова ◽  
С.Дж. Боконбаева ◽  
Х.М. Сушанло ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Methylenetetrahydrofolate Reductase ◽  
Strong Association ◽  
Mthfr Gene ◽  
Control Group ◽  
Increased Risk ◽  
Pcr Rflp ◽  
1298C Allele ◽  
Kyrgyz Population

Цель. Изучить ассоциацию полиморфных локусов С677Т и А1298С гена MTHFR с развитием дефектов нервной трубки (ДНТ) у детей киргизской национальности. Методы. В исследование включены 76 детей и их матери. В основную группу вошли 30 детей с пороками невральной трубки, чаще всего в виде изолированной спиномозговой грыжи или в сочетании с другими врожденными пороками развития, а также их матери. 46 детей без ДНТ и их матери составили контрольную группу. Идентификация генотипов полиморфных локусов С677Т и А1298С гена MTHFR проводилась методом анализа полиморфизма длин рестрикционных фрагментов (ПДРФ). Результаты. При анализе распределения генотипов и аллелей полиморфизма А1298С гена MTHFR выявлено, что среди детей с ДНТ статистически значимо чаще встречались гетерозиготный генотип А1298С (χ²=9,67; р=0,0079) и аллель 1298С (χ²=4,17; р=0,04). При наличии генотипа А1298С риск развития ДНТ повышается в 4,71 раза (OR=4,71; p=0,0079), а при наличии аллеля 1298С - в 2,2 раза (OR=2,20; p=0,04). Полиморфный локус С677Т гена MTHFR самостоятельно не был ассоциирован с ДНТ, однако гетерозиготность по двум полиморфным аллелям ассоциирована с ДНТ (χ²=5,60; p=0,018) и существенно повышает относительный риск развития ДНТ (OR=9,75; p=0,018). Заключение. У детей киргизской национальности полиморфный локус А1298С гена MTHFR ассоциирован с развитием дефекта нервной трубки. Комбинированная гетерозиготность (С677Т/А1298С) по обоим полиморфизмам является дополнительным отягощающим фактором. Aim. The aim of the study was to investigated whether polymorphisms С677Т and А1298С of the MTHFR gene are associated with neural tube defects (NTDs) in the Kyrgyz population. Methods. The study included 76 children and their mothers. The study group included 30 children and their mothers, where the child had a neural tube defect, most commonly in the form of an isolated spina bifida or in combination with congenital anomalies. Control group - 46 children without congenital malformations. С677Т and А1298С polymorphisms analysis in the MTHFR gene were performed by PCR-RFLP method. Results. The frequency of the heterozygous A1298C genotype (χ²=9,67; p=0,0079) and 1298C allele (χ²=4,10; p=0,041) of the MTHFR gene was higher in cases than in controls. Child with heterozygous A1298C genotype had a 4,71- fold (OR=4,71; p=0,0079) higher risk of NTDs when compared with those who had the AA genotype. Child carriers of the 1298C allele had a 2,2-fold higher risk of NTDs (OR=2,20; p=0,041). С677Т/А1298С genotypes are more frequent among cases than controls (χ²=5,00; p=0,025). We showed that the combinations of С677Т/А1298С is strong association with NTDs (χ²=5,60; p=0,018). Subjects carriers of the combinations of С677Т/А1298С genotypes had a significant 9,7-fold higher risk of NTDs (OR=9,75; p=0,018). Conclusion. There is significant association between С677Т and А1298С polymorphism in MTHFR gene and neural tube defects in the Kyrgyz population. An increased risk of neural tube defects associated with heterozygous A1298C genotype, 1298C allele and combinations of С677Т/А1298С in MTHFR gene.

Little Evidence of the Protective Role of MTHFR Genetic Polymorfism in Acute Leukaemia and Down Syndrome in Brazil.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 4427-4427
Author(s):  
Crisiane W. Zanrosso ◽  
Mariana Emerenciano ◽  
Flavio Ramos ◽  
Alexandre Figueiredo ◽  
Isis Q. Magalhaes ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Methylenetetrahydrofolate Reductase ◽  
Distinct Group ◽  
Mthfr C677t ◽  
Protective Role ◽  
Control Group ◽  
Acute Leukemias ◽  
Reductase Gene ◽  
Pcr Rflp ◽  
Childhood Acute Leukemia

Abstract Immunomolecular and genetic markers are great tools to understand the pathway of leukemogenesis. Because of acute leukemias (ALs) commonly arise as result of DNA damage and/or DNA translocations, the polymorphism of 5,10-methylenetetrahydrofolate reductase gene (MTHFR) have been associated to reduced enzyme activity and altered distribution of cellular folate metabolites. We have determined the prevalence of MTHFR mutations C677T and A1298C in 227 children with AL from different regions of Brazil and 279 region-matched subjects as the control group. PCR-RFLP method was applied using HinfI and MboII restriction digestion to determine the MTHFR 677 and 1298 respectively. Odds ratio (OR) and 95% confidence intervals (95%CI) were used as statistics standard methods. There were 202 acute lymphoblastic leukemias (ALL) and 65 acute myeloid leukemias (AML) from three different regions of Brazil. The frequencies of the 677CC, 677CT and 677TT genotype were 57%, 33%, 10% in the ALL cases; and 51%, 40%, 9% in the controls, respectively. Whereas the frequencies of MTHFR 1298AA, 1298AC and 1298CC were 52%, 40%, 8% in the ALL cases and 61%, 32%, 7% in the controls, respectively. Also, we analyzed separately a group of Down syndrome (DS) cases that include (i) DS with AL and, (ii) DS without AL. The frequencies of the 677CC, 677CT and 677TT genotype were 2,16%, 2,37%, 0% in the DS with AL cases, and 4,31%, 3,02%, 0,22% in the DS without AL, respectively. Whereas the frequencies of MTHFR 1298AA, 1298AC, 1298CC were 2,94%, 1,05%, 0,84% in the DS with AL and 4,83%, 2,10%, 0,63% in the DS without AL, respectively. There were no differences of MTHFR C677T frequencies in both groups in overall analysis. However, the frequency of MTHFR 677 and MTHFR 1298 genotypes differ between cases and controls in different regions of Brazil (p<0.04). The overall analysis indicates that MTHFR C677T and A1298C may confer a protective effect against childhood acute leukemia only in distinct group of cases. Region OD IC (95%) p South 0.41 0.045–3.59 0.69 Southeast 0.78 0.265–2.33 0.84 Northeast 1,02 0.385–2.65 0.69

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 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.

scholarly journals MTHFR 677 C< T and 1298 A>C polymorphisms increases the risk of recurrent abortion in the Iraqi woman

2021 ◽  
Author(s):  
Emad Salaam Abood ◽  
Maryam Sabah Naser ◽  
Raheem Jabaar Naser
Keyword(s):  
Human Blood ◽  
Protein C ◽  
Methylenetetrahydrofolate Reductase ◽  
Protein S ◽  
Mthfr C677t ◽  
First Trimester ◽  
Mthfr Gene ◽  
Control Group ◽  
C Protein ◽  
Cardiolipin Antibodies

Abstract Background: The C677T and A1298C polymorphism mutations in the methylenetetrahydrofolate reductase (MTHFR) gene will be investigated in a multi-abortion study. Aim: To determine mutation (SNP) in the methyl tetrahydrofolate reductase (MTHFR) Gene with multiple abortion. Methods: “We nominated two hundred patients for this study in three groups: the study group, The first group included 50 women with a history of 1 or 2 missed first trimester Abortions and fifty to control group the last group which consisted of one hundred Patients with a history more than two missed abortion. Anticoagulants human blood tests such as (protein C, protein S, and lupus) as well as general serum tests IgG and IgM for (Cytomegalovirus, Toxoplasma gondii, Rubella virus, Anti-cardiolipin antibodies and anti-phospholipid antibody) were performed. In addition, screening of the maternal MTHFR C667T and MTHFR a 1298C mutation was determined by PCR.Result: all common serum test for study population (CMV, Toxo, Rubella, ACA and APL) IgG and IgM, also anticoagulants human blood test (protein C, protein S and Lupus) is negative. The frequency of heterozygous (genotype) A1298C and C677T was similar. The distribution of MTHFR, C677T and A1298C genotypes show significantly differences P ≤ 0.05; OR= (95%CI) between patients with multiple abortions and control subjects.Conclusions: the result suggestion MTHFR A>C 1298 and C< T 677 polymorphisms might be associated with multiple abortion in the examined population.

Sign in / Sign up

Export Citation Format

Share Document