Clinical Implications of Methylenetetrahydrofolate Reductase Mutations and Plasma Homocysteine Levels in Patients with Thromboembolic Occlusion

Park, Won-Cheol; Chang, Jeong-Hwan

doi:10.5758/vsi.2014.30.4.113

Cited by 31 publications

(32 citation statements)

References 26 publications

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“…It has also been reported to take part in the initiation and maintenance of a migraine episode via endothelial cell injury, induction of trigeminal and cortical excitability, direct neurotoxic effects, and malfunction in blood coagulation system . As one of the key enzymes in folic acid and the Hcy metabolism, MTHFR takes charge of the irreversible transformation of 5,10‐methylentetrahydrofolate to 5‐methyltetrahydrofolate, a methyl donor for methylation of Hcy to methionine . Several polymorphic sites have been found in MTHFR gene, but only the C677T (Ala > Val, rs1801133) and A1298C (Glu > Ala, rs1801131) substitutions may lead to hyperhomocysteinemia due to the reduction of enzymatic activity .…”

Section: Discussionmentioning

confidence: 99%

Effects of MTHFR C677T and A1298C Polymorphisms on Migraine Susceptibility: A Meta‐Analysis of 26 Studies

Liu

et al. 2019

Headache

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Background Multiple studies have evaluated the associations between 5,10‐methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and migraine risk with conflicting results. Therefore, we conducted a meta‐analysis on this theme. Methods We searched the electronic databases of PubMed, EmBase, ScienceDirect, and Cochrane Library for all relevant studies published until April 6, 2018. Pooled odds ratios (ORs) and corresponding 95% confidence intervals (CIs) in allelic, dominant, recessive, homozygous, and heterozygous models were calculated using random effects model to assess the strength of associations. We also performed subgroup analyses stratified by ethnicity and migraine subtypes, respectively. Results Twenty‐six studies (20 in Caucasians, 3 in Asians, 2 in Indians, and 1 in Pakistanis) with 10,228 migraineurs and 28,608 controls were included in this meta‐analysis. In the overall population, the allele 677T and TT genotype were associated with an increased risk for total migraine and migraine with aura (MA) (total migraine: T vs C: OR = 1.19, 95%CI = 1.06‐1.33, P = .004; TT vs CC: OR = 1.32, 95%CI = 1.07‐1.64, P = .011; MA: T vs C: OR = 1.28, 95%CI = 1.09‐1.51, P = .003; TT vs CC: OR = 1.51, 95%CI = 1.09‐2.08, P = .012), but not for migraine without aura (MO). Subgroup analysis stratified by ethnicity revealed similar findings in Caucasians. In Asians, the association was detected only in recessive model in total migraine (TT vs CT + CC: OR = 1.80, 95%CI = 1.14‐2.85, P = .012). Results in Indians did not suggest any association in either total migraine or its subtypes. Pooled results of 5 studies (4 in Caucasians and 1 in Indians) on A1298C polymorphism indicated a significant association between the CC genotype and migraine risk (CC vs AA: OR = 1.78, 95%CI = 1.03‐3.07, P = .038), which only appeared for MO (CC vs AA: OR = 2.83, 95%CI = 1.30‐6.16, P = .009). Conclusions Our meta‐analysis suggested that allele 677T in MTHFR C677T polymorphism might be a genetic risk factor for MA in Caucasians, and genotype 1298CC might contribute to MO susceptibility.

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Section: Discussionmentioning

confidence: 99%

Effects of MTHFR C677T and A1298C Polymorphisms on Migraine Susceptibility: A Meta‐Analysis of 26 Studies

Liu

et al. 2019

Headache

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“…To date, there are reports that have linked rs1801133 polymorphism within MTHFR gene with arterial hypertension [33], cancer [34], diabetes [35], and many other diseases; however, the results of replication studies vary in between [36]. The homozygous mutated subjects for rs1801133 have higher homocysteine levels and hyperhomocysteinemia is an emerging risk factor for various thrombotic diseases [37]. A large number of studies has clearly shown that MTHFR gene polymorphism rs1801133 is a risk factor for thrombotic events [25].…”

Section: Discussionmentioning

confidence: 99%

Thrombosis RelatedABO,F5,MTHFR,andFGGGene Polymorphisms in Morbidly Obese Patients

et al. 2016

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Objective. Obesity is a well-known risk factor for thrombotic complications. The aim of the present study was to determine the frequency of thrombosis related ABO, F5, MTHFR, and FGG gene polymorphisms in morbidly obese patients and compare them with the group of nonobese individuals. Methods. Gene polymorphisms were analyzed in 320 morbidly obese patients (BMI > 40 kg/m2) and 303 control individuals (BMI < 30 kg/m2) of European descent. ABO C>T (rs505922), F5 C>G (rs6427196), MTHFR C>T (rs1801133), and FGG C>T (rs6536024) SNPs were genotyped by RT-PCR. Results. We observed a tendency for MTHFR rs1801133 TT genotype to be linked with morbid obesity when compared to CC genotype; however, the difference did not reach the significant P value (OR 1.84, 95% CI 0.83–4.05, P = 0.129). Overall, the genotypes and alleles of rs505922, rs6427196, rs1801133, and rs6536024 SNPs had similar distribution between morbidly obese and nonobese control individuals. Distribution of height and weight means among individuals carrying different rs505922, rs6427196, rs1801133, and rs6536024 genotypes did not differ significantly. Conclusions. Gene polymorphisms ABO C>T (rs505922), F5 C>G (rs6427196), MTHFR C>T (rs1801133), and FGG C>T (rs6536024) were not associated with height, weight, or morbid obesity among European subjects.

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“…Increased homocysteine levels are known risk factors for cardiovascular diseases and formation of thrombosis (24). Deficiencies of group B vitamins (B6, folic acid, B12) and genetic deficiency of MTFHR enzyme which is involved in transformation of folate to its active form are risk factors for hyperhomocysteinemia (25). Especially two known polymorphisms of the MTFHR gene (MTFHR C677T and A1298C) have been associated with increased homocysteine levels (26).…”

Section: Discussionmentioning

confidence: 99%

“…Especially two known polymorphisms of the MTFHR gene (MTFHR C677T and A1298C) have been associated with increased homocysteine levels (26). However, a direct relation of gene mutations with thrombosis has not been demonstrated, although it is known that MTFHR gene mutations are a reason for hyperhomocysteinemia and hyperhomocysteinemia is a risk factor for formation of thrombosis (25).…”

Section: Discussionmentioning

confidence: 99%

Evaluation of cases with cerebral thrombosis in children

et al. 2016

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Aim: We aimed to evaluate the patients who were followed up in our clinic with a diagnosis of cerebral sinovenous thrombosis in terms of age, sex, clinical findings, etiology, thrombophilic factors, imaging findings, treatment and prognosis. Material and Methods:The files of 11 patients who were followed up in our pediatric neurology clinic with a diagnosis of cerebral thrombosis between 1 December 2010 and 31 December 2014 were retrospectively analyzed. Results:Seven of 11 patients were male (63.6%). The median age was 14 years (2-17 years). Six (54%) of the patients presented with a complaint of headache. Other complaints at presentation included diplopia (n:3), weakness and difficulty in speaking (n:1) and seizure (n:1). A diagnosis of pseudotumor cerebri was made in eight of the patients (72.7%). In the etiology, mastoiditis was found in three patients, mastoiditis and meningitis were found in combination in one patient, Behçet's disease was found in three patients and head trauma was found in one patient. In 3 patients, only prothrombotic genetic risk factors were present; one patient had deficiency of protein C and S, one patient had deficiency of antithrombin III and one patient had hyperhomosisteinemia in association with vitamin B12 deficiency. 1A homozygous MTFHR A1298C mutation was detected in the patient who had mastoiditis and meningitis and protein S deficiency and lupus anticoagulant were found in another patient who had mastoiditis. All patients received anticoagulant treatment and all patients recovered without neurological sequelae except one.Conclusions: Cerebral sinovenous thrombosis should be considered in patients who present with headache and focal neurological deficits. Appropriate utilization of imaging studies is necessary for the diagnosis. Detailed ear, nose and throat examination should be performed to detect mastoiditis. It is recommended that genetic risk factors should be investigated, because hereditary thrombophilis factors may have a role in children. Behçet's disease which is relatively common in our country should be considered in differential diagnosis. (Turk Pediatri Ars 2016; 51: 87-93)

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Clinical Implications of Methylenetetrahydrofolate Reductase Mutations and Plasma Homocysteine Levels in Patients with Thromboembolic Occlusion

Cited by 31 publications

References 26 publications

Effects of MTHFR C677T and A1298C Polymorphisms on Migraine Susceptibility: A Meta‐Analysis of 26 Studies

Effects of MTHFR C677T and A1298C Polymorphisms on Migraine Susceptibility: A Meta‐Analysis of 26 Studies

Thrombosis RelatedABO,F5,MTHFR,andFGGGene Polymorphisms in Morbidly Obese Patients

Evaluation of cases with cerebral thrombosis in children

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