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1.
Clinics ; 76: e2881, 2021. tab
Article in English | LILACS | ID: biblio-1339702

ABSTRACT

OBJECTIVE: The folate pathway is involved in hepatic carcinogenesis and angiogenesis. Polymorphisms in genes related to such processes, including methylene tetrahydrofolate reductase (MTHFR) and vascular endothelial growth factor (VEGF)] may play an important role in the development of hepatocellular carcinoma (HCC). The objective of this study was to evaluate MTHFR and VEGF polymorphisms in Brazilian patients with hepatitis C virus (HCV)-related HCC. METHODS: A total of 119 patients diagnosed with confirmed HCC and HCV were included in the study. SNP genotyping assays were performed using real-time PCR. VEGFA (rs2010963, rs3025039, and rs833061) and MTHFRC677T (rs1801133, rs1801131) polymorphisms were evaluated. RESULTS: The C alleles of MTHFR (rs1801131) and VEGF (rs2010963) were associated with protection against the development of multinodular HCC, while the T allele of MTHFR (rs1801133) was associated with a higher risk of multinodular presentation [p=0.04 OR 1.835 CI (1.022-3.297)]. Multivariate analysis revealed that the GG/GC genotypes of VEGF rs2010963 were independently associated with multinodular tumors at diagnosis (p=0.013; OR 4.78 CI (1.38-16.67)]. CONCLUSION: Our results suggest that these polymorphisms may increase the risk of rapid tumor progression in patients with HCV infection. This subgroup of patients with HCC and who present polymorphism is more likely to be diagnosed with multinodular disease and not be amenable to receiving curative treatments. These data must be validated in larger cohorts, and the screening intervals can be customized based on genetic history.


Subject(s)
Humans , Hepatitis C , Carcinoma, Hepatocellular/genetics , Liver Neoplasms/genetics , Case-Control Studies , Hepacivirus , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Vascular Endothelial Growth Factor A/genetics , Genotype
2.
Chinese Journal of Blood Transfusion ; (12): 728-731, 2021.
Article in Chinese | WPRIM | ID: wpr-1004465

ABSTRACT

【Objective】 To retrospectively analyze the situation of patients with adverse fetal outcomes by thromboelastogram (TEG) parameters and, MTHFR gene polymorphism, so as to provide molecular biological diagnosis basis for patients with adverse pregnancy outcomes, and a new scheme for early prevention and treatment of women of childbearing age with MTHFR gene polymorphism. 【Methods】 A total of 100 women with adverse fetal pregnancy outcomes were selected as the adverse pregnancy group, and 100 healthy women of childbearing age with normal pregnancy history were selected as the controls. MTHFR gene C677T and A1298C polymorphisms were detected by polymerase chain reaction (PCR). TEG and blood coagulation were detected in the experimental group. 【Results】 The A1298C gene polymorphism(AA、CC、AC; A、C) was similar in both adverse pregnancy group and the controls. The frequency distribution of C, T allele of MTHFR gene C677T was statistically significant (χ2=4.60, P<0.05, OR =1.645, 95% CI: 1.042~2.595). TT and CT+ CC types showed significant different association with the factors of stillbirth(χ2 =7.49, P<0.05). MA value of TEG in the diagnosis of TT type of C677T genotypes MTHFR in 32 patients with adverse pregnancy outcome was analyzed. The area under the AUC curve of MA value was 0.795. 【Conclusion】 MTHFR C677T polymorphism TT with TEG parameter hypercoagulability is an important risk factor in the occurrence of pregnancy stillbirth in adverse pregnancy outcomes.

3.
Article | IMSEAR | ID: sea-215662

ABSTRACT

Background: Methotrexate (MTX) blocks MethyleneTetrahydrofolate Reductase (MTHFR) Enzymethereby, interrupt folate metabolism, it is used in thetreatment of cancer and autoimmune disorders. Aimand Objectives: The present study aimed to evaluatethe relationship of the MTHFR polymorphisms withserum MTX concentration and its toxicity in AcuteLymphoblastic Leukemia (ALL) patients treated withhigh dose MTX infusion. Material and Methods: Levelof Serum MTX was measured, along with the detectionof MTHFR polymorphisms viz. C677T and A1298Cby Polymerase Chain Reaction (PCR) followed byDNA sequencing. The percentages of toxicitydeveloped in patients were calculated among the wildtype and carriers for both polymorphisms and werecompared between the groups. Results:The majority ofpatients 36 (72 %) were wild type for the C677Tpolymorphism and 32 (64 %) of patients were carriersfor the A1298C polymorphism [48% heterozygous(AC), and 16 % homozygous (CC)]. Among 50 ALLpatients studied, significant difference was noted in thegenotype and allele frequencies for C677Tpolymorphism, while only allele frequencies differedsignificantly for A1298C polymorphism. The serumMTX level at 48 hours after the start of High DoseMTX (HDMTX) infusion of the C677T variant (CT)was slightly high in all four cycles however, in the firstcycle, there was a significant increase in the level ofMTX. There was no significant difference in the serumMTX level found in all four cycles between patientswild type and carriers for A1298C polymorphism. ForA1298C polymorphism, the mean SGPT level incarriers was significantly high as compared to wildtype. Conclusion: The present study concludes thatpatients with C667T variant had elevated serum MTXconcentration at 48 hours after the start of HDMTXinfusion.

4.
The Journal of Practical Medicine ; (24): 520-524, 2019.
Article in Chinese | WPRIM | ID: wpr-743762

ABSTRACT

Objective To investigate the expressions of thymidylate synthase (TS) and methylene tetrahydrofolate reductase (MTHFR) polymorphisms and the therapeutic efficacy of chemotherapy with pemetrexed and platinum in advanced lung adenocarcinoma patients. Methods Fifty-eight patients with advanced lung adenocarcinoma were enrolled in this study. The blood samples from 25 of them were examined for extraction of DNA. The associations of the gene polymorphisms with the chemotherapy efficacy and PFS were analyzed. Results Disease control rate was noted by 38% and the median time of progression-free survival was 8.1 months among 58 patients.There were 16%, 32%, 52%, and TS genotypes as 2R/2R, 2R/3R and 3R/3R respectively; the difference in the control rate between those with TS gene of 3R/3R and those with TS gene of R/2R+2R/3 R was significant statistically (53.8% vs. 91.7%, P = 0.046) , but the difference in PFS was statistically insignificant (9.3 vs. 10.4 months, P> 0.05). There were 40%, 52%, 8%, and MTHFR genotypes as CC, CT and TT respectively. The DCR in those with MTHFR CC and C/T + T/T was 70% and 73.3%, respectively and PFS was 10 months and 9.7 months respectively, showing no significant difference (P> 0.05). Conclusion The TS gene polymorphism is associated with therapeutic effect of pemetrexed for advanced lung adenocarcinoma, but MTHFR is not.

5.
Chinese Journal of Clinical Laboratory Science ; (12): 324-329, 2018.
Article in Chinese | WPRIM | ID: wpr-694842

ABSTRACT

Objective To establish a rapid detection method for human methylene tetrahydrofolate reductase ( MTHFR) gene polymor-phism by using the primer mismatching amplification and fluorescence quantitative PCR. Methods A total of 214 samples with differ-ent MTHFR C677T genotypes ( CC, CT, TT) or different A1298C genotypes ( AA, AC, CC) , which were verified by gene sequen-cing, were collected, and the plasmids with the corresponding wild-type and homozygous mutants were constructed, respectively. The amplification refractory mutation system ( ARMS) primers and TaqMan probes were designed based on the wild-type standard sequence of MTHFR gene, and the optimal mutation detection system was established. The results from the system were compared with the known sequencing results to verify the feasibility of the system. Results The performance of the established TaqMan-ARMS method was ex-cellent, which had 10 copies/μL of lowest detectable limit and high specificity. There was no nucleic acid amplification in the cross de-tection between samples and the negative control. In addition, the established method had good repeatability. The standard deviations of the reproducibility detection of MTHFR-667 and 1298 loci ranged from 0.11 to 0.44, and the coefficients of variation ( CV) of homozy-gous and heterozygous samples were all less than 4.52%. The consistency of the established method with the sequencing method in 214 clinical samples was 100%. Conclusion The established TaqMan-ARMS method for the detection of MTHFR gene polymorphism is simple, rapid and accurate, which may be used for the rapid diagnosis of clinical patients.

6.
Rev. chil. nutr ; 44(1): 6-11, mar. 2017. graf, tab
Article in Spanish | LILACS | ID: biblio-844500

ABSTRACT

Folate is an essential nutrient because mammals lack biological activity to synthesize. It different factors generate folate deficiency. Recent studies have identified that the C677T variant of the enzyme methylene tetrahydrofolate reductase (MTHFR), can play a role in serum folate concentrations (SFC) and red cell folate (RCF). The aim of this rewiev was to actualice some generalities of folate metabolism, factors related to its deficiency, biochemical indicators used to assess the nutritional status of folate and role of the C677T polymorphism of the MTHFR enzyme on the cycle of folate and methionine. It is necessary to design studies with representative samples corroborating the effect of polymorphisms on biochemical indicators of nutritional status of folate and determine the dose-response effect and contribute to modify the nutritional recommendations with the necessary scientific evidence.


El 62% de la población chilena presenta sobrepeso (dato OMS). Publicar calorías en menús de restaurantes podría ayudar a controlar este problema. El objetivo fue estudiar el efecto de la entrega de información calórica en la elección de almuerzos típicos. La metodología tuvo un enfoque cuantitativo, con encuesta on line de diseño transversal, estructurada, con preguntas abiertas y cerradas, y con escala tipo Lykert. Se obtuvo 227 respuestas válidas. Los encuestados seleccionaron un almuerzo de 3 elementos, antes y después de exponer información calórica. Los resultados mostraron que el 49% de los encuestados reduce en promedio 292 kcal, (39,2% del total de calorías en menú) al considerar la información calórica. Nuestros resultados sugieren que aproximadamente para la mitad de los encuestados, la información fue útil en la selección de menú. Esta información podría ayudar a profesionales de la Salud a crear conciencia, facilitando a los consumidores elecciones más saludables.


Subject(s)
Humans , Energy Intake , Nutritional Facts , Food , Food Labeling , Food Services , Choice Behavior
7.
Article | IMSEAR | ID: sea-186059

ABSTRACT

MTHFR A1298C and C677T SNPs are now recognised as important genetic mutations which would give rise to hyperhomocysteinemia. In this study, we analysed the prevalence of these two SNPs in 79 ischemic heart disease (IHD) patients awaiting coronary artery bypass grafting and 79 healthy subjects. MHFR polymorphisms were analysed using polymerase chain reaction followed by a restriction fragment analysis. Prevalence rates for MTHFR C677T polymorphism were 72.8%, 24.7%, and 2.5% for CC, CT, and TT genotypes, respectively, for the whole study population with 677CC genotype being the predominant genotype among both the IHD patients and the controls. The 677TT genotype was detected only among the IHD patients. There was no significant difference in MTHFR 677 genotype variations between IHD patients and the control group. Prevalence rates for the MTHFR A1298C polymorphism were 50%, 37.3%, and 12.7% for the AA, AC, and CC genotypes, respectively, for the whole study population with 1298AA genotype being the predominant genotype among controls and 1298AC the predominant genotype among IHD patients. There was a significant difference (p < 0.01) between IHD patients and controls when the MTHFR 1298 genotype variations were compared. Allele frequencies for the mutant T allele for C677T mutation at 0.149 are the highest reported from Sri Lanka. The frequency of the C for the A1298C mutation was 0.313. Results of this study indicate that MTHFR A1298C SNP is more prevalent in Sri Lankans when compared to C677T SNP and that the mutant forms of the MTHFR A1298C SNP are associated with ischemic heart disease.

8.
Journal of International Oncology ; (12): 619-621, 2017.
Article in Chinese | WPRIM | ID: wpr-659123

ABSTRACT

Colorectal cancer (CRC) is one of the most common malignancies in the world.Methylene tetrahydrofolate reductase (MTHFR) is a key enzyme of folate metabolism process.In recent years,many studies indicate that MTHFR polymorphisms are significantly associated with the morbidity,response to chemotherapy and prognosis of CRC,but conclusions are inconsistent and remain to be further confirmed.

9.
Journal of International Oncology ; (12): 619-621, 2017.
Article in Chinese | WPRIM | ID: wpr-657256

ABSTRACT

Colorectal cancer (CRC) is one of the most common malignancies in the world.Methylene tetrahydrofolate reductase (MTHFR) is a key enzyme of folate metabolism process.In recent years,many studies indicate that MTHFR polymorphisms are significantly associated with the morbidity,response to chemotherapy and prognosis of CRC,but conclusions are inconsistent and remain to be further confirmed.

10.
Chinese Pharmaceutical Journal ; (24): 1644-1648, 2017.
Article in Chinese | WPRIM | ID: wpr-858584

ABSTRACT

OBJECTIVE: To investigate the association between methylene tetrahydrofolate reductase (MTHFR)C677T polymorphism and the efficacy of the adjuvant chemotherapy with XELOX regimen for patients who had underwent radical resection of colorectal cancer. METHODS: Sixty-two patients who had received chemotherapy with XELOX regimen following radical resection of colorectal cancer were tested for MTHFR C677T polymorphism using Kompetitive Allele-Specific PCR to analyze the association of MTHFR C677T polymorphism with the prognosis and adverse reactions to chemotherapy. RESULTS: Among the 62 patients with colorectal cancer, there were 3 allelotypes (C/C, C/T and T/T)at the MTHFR C677T locus, and their frequencies were 46.8%, 40.3%, and 12.9%, respectively. The recurrence free survival time was prolonged in C/T and T/T group than C/C group(Log-rank=4.778, P0.05). CONCLUSION: MTHFR C677T polymorphism is associated with the prognosis with adjuvant chemotherapy with XELOX regimen, and is not associated with the toxicities of chemotherapy. TNM stage IV is predicative of worse prognosis with postoperative adjuvant chemotherapy.

11.
Rev. chil. nutr ; 43(4): 336-345, dic. 2016. ilus, tab
Article in Spanish | LILACS | ID: biblio-844484

ABSTRACT

Folate is an essential nutrient because mammals lack biological activity to synthesize. It different factors generate folate deficiency. Recent studies have identified that the C677T variant of the enzyme methylene tetrahydrofolate reductase (MTHFR), can play a role in serum folate concentrations (SFC) and red cell folate (RCF). The aim of this rewiev was to actualice some generalities of folate metabolism, factors related to its deficiency biochemical indicators used to assess the nutritional status of folate and role of the C677T polymorphism of the MTHFR enzyme on the cycle of folate and methionine. It is necessary to design studies with representative samples corroborating the effect of polymorphisms on biochemical indicators of nutritional status of folate and determine the dose-response effect and contribute to modify the nutritional recommendations with the necessary scientific evidence.


El folato es un nutriente esencial porque los mamíferos carecen de actividad biológica para sintetizarlo. Diferentes factores generar deficiencia de folato. Estudios recientes han identificado que la variante C677T de la enzima metilen tetrahidrofolato reductasa (MTHFR), puede jugar un papel en las concentraciones de folato sérico (FS) y eritrocitario (FE). El objetivo de este trabajo fue revisar algunas generalidades del folato, su metabolismo, los factores relacionados con su deficiencia, los indicadores bioquímicos utilizados para evaluar el estado nutricional del folato y el papel del polimorfismo C677T de la enzima MTHFR sobre el ciclo del folato y de la metionina. Es necesario diseñar estudios con muestras representativas que corroboren el efecto de los polimorfismos sobre los indicadores bioquímicos del estado nutricional del folato y determinar el efecto dosis-respuesta y así contribuir con la evidencia científica necesaria para modificar las recomendaciones nutricionales.


Subject(s)
Humans , Vitamin B 12 , Food , Methylenetetrahydrofolate Reductase (NADPH2) , Enzymes
12.
Indian J Cancer ; 2015 Nov; 52(5)Suppl_1: s26-s28
Article in English | IMSEAR | ID: sea-169207

ABSTRACT

OBJECTIVE: The aim of this meta‑analysis was to assess the methylene tetrahydrofolate reductase (MTHFR) gene C677T polymorphisms and esophageal cancer susceptibility in Chinese Han population. MATERIALS AND METHODS: The databases of PubMed, MEDLINE, Wanfang, and CNIK was electronic searched to find the case–control or cohort study about the relationship between MTHFR gene C677T polymorphisms and esophageal cancer susceptibility in Chinese Han population. The odds ratio (OR) was used to assess the relationship between CC, CT, and TT genotype and esophageal cancer risk. The data were pooled using Stata 11.0 software. RESULTS: Eight articles included 1752 esophageal cancer and 2363 controls were found and included in this meta‑analysis. The pooled OR was 1.86 with its 95% confidence interval of 1.21–2.86 and 1.62 with its 95% confidence interval of 1.15–2.27 for TT versus CC and CT versus CC model which indicated that people with TT OR CT genotype significant increase the risk of developing esophageal cancer. CONCLUSION: Esophageal cancer risk was significantly increased in people with TT/CT genotype of MTHFR gene.

13.
Chinese Journal of Biochemical Pharmaceutics ; (6): 85-88, 2015.
Article in Chinese | WPRIM | ID: wpr-477221

ABSTRACT

Objective To investigate the effect of fluorouracil for injection on methylene tetrahydrofolate reductase ( MTHFR ) , glutathione S-transferase ( GST) and tumor markers in patients with advanced gastric cancer.Methods Forty-eight cases with advanced gastric cancer were selected from August 2013 to August 2014 in the hospital and divided into two groups.The control group (n=24) were treated with capecitabine plan, and the experiment group ( n=24 ) were treated with fluorouracil for injection plan.MTHFR concentration, GST activity and tumor markers [ carbohydrate antigen-199(CA199), carcinoembryonic antigen (CEA), alpha fetoprotein(AFP)] levels were compared before and after treatment.ResuIts Compared with control group, MTHFR concentration of experiment group was higher (P<0.05), GST activity was lower (P<0.05), the tumor markers levels were lower (P<0.05), total effective rate of clinical symptoms was higher [16(66.67) vs.22(91.67), χ2 =4.55, P<0.05], and incidence of adverse reactions was lower [14(58.33) vs.6(25.00), χ2 =5.49, P<0.05].ConcIusion Fluorouracil for injection chemotherapy could increase the serum MTHFR concentration, reduce GST activity, and its clinical curative effect is obvious with less adverse reactions, which has important significance in treatment of patients with advanced gastric cancer.

14.
The Journal of Practical Medicine ; (24): 1091-1093, 2014.
Article in Chinese | WPRIM | ID: wpr-448228

ABSTRACT

Objective To investigate the impact of methylene tetrahydrofolate reductase (MTHFR) gene polymorphism on folicacid for lowering plasma level of homocysteine in elderly patients with coronary heart disease (CHD). Methods In the first affiliated hospital of Zhengzhou university,a total of 180 elderly patients with CHD were randomized to two groups. The study group (91 ptients) received folicacid 5mg once daily and the control group (89 patients) received no folic acid. 8 weeks after treatment, the changes in plasma Hcy were observed and analyzed by MTHFR genotypes (TT vs. CC vs. CT). Results Plasma Hcy of the three genotypes had a statistical significance at the baseline (P<0.001), among which plasma Hcy level was the hightest in patients with genotype TT, while it had on difference in genotypes CC and CT (P = 0.057). 8 weeks after treatment, plasma Hcy level declined up to 24%in the patients with genotype TT in the study group, while it decreased about 6%and 15%in patients with genotype CC or CT, separately. Hcy level was slightly decreased in the patients with genotype CC, CT, or TT in the control group. Conclusions Plasma Hcy level differs statistically in three genotypes, and it is the highest in genotyp TT. Folicacid can effectively lower the level of plasma Hcy in elderly patients with CHD, especially those with genotype TT.

15.
Korean Journal of Dermatology ; : 276-279, 2013.
Article in Korean | WPRIM | ID: wpr-110547

ABSTRACT

Livedoid vasculopathy is a hyalinizing vascular disease characterized by thrombosis and ulceration of the lower extremities. It can be caused by an alteration in control of coagulation with the formation of thrombi within dermal blood vessels. We report a case of livedoid vasculopathy with hyperhomocysteinemia due to MTHFR mutation, which is treated by folic acid and which also showed very unusual clinical manifestations. A 38-year-old male visited the department of dermatology with a 1 year history of purplish-brown purpura with punched-out ulcers on both lower legs. He had a history of homocysteinemia due to methylene tetrahydrofolate reductase (MTHFR) mutation. The histopathologic findings of the lesional skin revealed dense superficial and deep perivascular and perifollicular infiltrates of lymphocytes and fibrin deposition within the vessels in the dermis. On the basis of clinical and pathological findings, livedoid vasculopathy with hyperhomocysteinemia due to MTHFR mutation was diagnosed and improved by the treatment of 1 mg of folic acid daily.


Subject(s)
Humans , Male , Blood Vessels , Dermatology , Dermis , Fibrin , Folic Acid , Hyalin , Hyperhomocysteinemia , Leg , Lower Extremity , Lymphocytes , Methylenetetrahydrofolate Reductase (NADPH2) , Purpura , Skin , Tetrahydrofolates , Thrombosis , Ulcer , Vascular Diseases
16.
Indian J Dermatol Venereol Leprol ; 2011 Jul-Aug; 77(4): 494-497
Article in English | IMSEAR | ID: sea-140888

ABSTRACT

A middle-aged hypertensive male, with a fatty liver and chronic alcohol intake, relocated to a high altitude of 2100 m above sea level; in the first winter season, he developed bluish skin lesions over the tip of the nose, margins of both ear lobes, both knees, and subungual location. Systemic examination was unremarkable. Skin biopsy showed thrombi in dermal vessels without any evidence of vasculitis; immunofluorescence was negative. Investigations revealed mild elevation in plasma homocysteine levels, weakly positive antinuclear antibodies and elevated antiphospholipid antibodies, methylene tetrahydrofolate reductase C677T heterozygosity, and protein S deficiency. The patient received prednisolone for 2 weeks, aspirin and pentoxyphylline for 3 months, and continues to be on folic acid and vitamin B6. After 3 months, antiphospholipid antibodies and antinuclear antibody levels were normal. Isolated distal cutaneous thrombosis is an uncommon entity and precipitation by extreme cold in a hypertensive male with three thrombophilic states - one transient, one hereditary, and one acquired - is fascinating.

17.
Univ. med ; 50(3): 322-334, jul.-dic. 2009. tab
Article in Spanish | LILACS | ID: lil-601531

ABSTRACT

La enfermedad cardiovascular es la primera causa de muerte en el mundo occidental. Por esta razón, es necesario describir los factores de riesgo conocidos, al igual que los factores genéticos, nutricionales y ambientales emergentes, como la hiperhomocisteinemia y la deficiencia de la vitamina B12 y de ácido fólico en la población colombiana, que permitan proponer estrategias comunitarias de control de la enfermedad. El objetivo de este estudio fue describir los factores de riesgo conocidos y los emergentes,principalmente la hiperhomocisteinemia y los polimorfismos relacionados con ella en pacientes con síndrome coronario agudo. El estudio incluyó 156 pacientes, a quienes se les cuantificó perfil lipídico, glucosa, creatinina, urea, homocisteína, vitamina B12 y ácido fólico, y se describieron las frecuencias de las variantes polimórficas c.677C/T, de la MTHFR (5,10-methylenetetrahydrofolate reductase y c.699C/T, c.1080 C/T y c.844ins68pb de CBS (Cystathionine â-Synthase). El 43,6% de los pacientes con síndrome coronario agudo correspondió a las mujeres y el 56,4% a los hombres. Los valores medios de colesterol total, cLDL, cHDL, glucosa, homocisteína, vitaminas B12 y ácido fólico, se encontraron en el rango normal. Sin embargo, se pudo observar que la homociste ína presentaba una tendencia al aumento con la edad, tanto en hombres como en mujeres. Los niveles de cHDL en el grupo de hombres y de mujeres, presentaron diferencia significativa (p=0,0379) e, igualmente, la diferencia fue significativa en los niveles de creatinina (p=0007), de vitamina B12 (p=0,0341) y en la diabetes mellitus (p=0,0436). Con este estudio se realizó una aproximación a la descripción de los niveles del perfil lipídico, glucemia, hiperhomocisteinemia y de polimorfismos en genes involucrados en la vía de la homocisteínametionina, en pacientes con enfermedad cardiovascular en la población colombiana...


Cardiovascular diseases are the main cause of death in the western world. Therefore, it is necessary to describe the associated genetic, nutritional and environmental risk factors, including hyperhomocysteinemia, vitamin B12 and folic acid deficiencies in the Colombian population. Through this survey we want to propose strategies to the community in order to control cardiovascular diseases. The goal of this study was to describe the known risk factors and also the emerging ones such as hyperhomocysteinemia and some polymorphisms, in a Colombian population Our study included 156 patients with acute coronary artery syndrome, whose lipid, glucose, creatinine, homocysteine, vitamin B12 and folic acid levels were measured and the identification of polymorphisms 677C/T, from the MTHFR and 699C/T, 1080C/T, 844ins68pb of CBS. Overall, 43.6% of patients with acute coronary artery syndrome corresponded to women, and 56.4% to men who participated in this study. The results of cholesterol CLDL, CHDL, glucose, homocysteine, vitamin B12 and folic acid levels were found in normal ranges. However, we were able to observe that the homocysteine presented a tendency to increase with age in men and women,the CHDL levels within the group of men and women showed a significant difference (p=0.0379)as well as in the levels of creatinine (p=0.0007) of vitamin B12 (p=0.0341) and diabetes mellitus (p=0.0436). In this study, we propose a rough description of the lipid, glycemia, and hyperhomocysteinemia levels and polymorphisms in genes involved the homocysteine-methionine metabolism in patients with cardiovascular disease in the population of Colombia...


Subject(s)
Cardiovascular Diseases , Acute Coronary Syndrome
18.
Journal of Clinical Neurology ; : 137-140, 2006.
Article in English | WPRIM | ID: wpr-52483

ABSTRACT

Hyperhomocysteinemia associated with methylene terahydrofolate reductase (MTHFR) mutation can be a risk factor for idiopathic cerebral venous thrombosis. We describe the first case of MTHFR 677TT homozygote with cerebral venous thrombosis and livedo reticularis. A 45-year-old man presented with seizures and mottled-like skin lesions, that were aggravated by cold temperature. Hemorrhagic infarct in the right frontoparietal area with superior sagittal sinus thrombosis was observed. He had hyperhomocysteinemia, low plasma folate level, and MTHFR 677TT homozygote genotype, which might be associated with livedo reticularis and increase the risk for cerebral venous thrombosis.


Subject(s)
Humans , Middle Aged , Cold Temperature , Folic Acid , Genotype , Homozygote , Hyperhomocysteinemia , Livedo Reticularis , Methylenetetrahydrofolate Reductase (NADPH2) , Oxidoreductases , Plasma , Risk Factors , Seizures , Skin , Superior Sagittal Sinus , Thrombosis , Venous Thrombosis
19.
Journal of Clinical Neurology ; (6)2001.
Article in Chinese | WPRIM | ID: wpr-587617

ABSTRACT

0.05).Conclusions The level of plasma Hcy in BD patients are higher than that of in the controls.Hyperhomocysteine may take part in the pathogenesis of BD, but the MTHFR gene C677T genotypes are not associated with BD.

20.
Journal of Traditional Chinese Medicine ; (12)1993.
Article in Chinese | WPRIM | ID: wpr-534045

ABSTRACT

Objective To explore the relationship between gene mutation and different syndromes of TCM in the early stage of diabetic nephropathy(DN).Methods Sixty-three patients with diabetic nephropathy in the early stage were observed.The methylene tetrahydrofolate reductase(MTHFR)C676T polymorphism was determined by polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP)assay.The levels of homocysteine(Hcy),acidum folicum,fasting glucose,postprandial glucose,glycosylated hemoglobin(HbA1C),urinary albumin excretion rate(UAER),and blood lipid were measured respectively,and the TCM syndromes were recorded.Results Of the 63 patients,19 were genotype CC,17 were genotype TT,and 27 were genotype CT.The genotypic frequency of TT was 27.00%,that of CT was 42.85%,and that of CC was 30.15%.The T allele frequency was 48.41% and C allele frequency 51.59%.The MTHFR C676T mutation was related with plasma Hcy level(P

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