Thermolabile methylenetetrahydrofolate reductase in patients with coronary artery disease

Kang, Seok Seon; Wong, Paul; Zhou, Jiemin; Sora, J.; Lessick, Mira; Ruggie, Neal; Grcevich, George

doi:10.1016/0026-0495(88)90076-5

Cited by 210 publications

(130 citation statements)

References 9 publications

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“…There have been reports of increased risk for cardiovascular disease in persons with the MTHFR C677T mutation (Morita et al 1997;Kang et al 1988Kang et al , 1991Gallagher et al 1996;Kluijtmans et al 1996). In one study, the presence of the MTHFR C677T mutation in a group of patients with venous thromboembolic disease in various parts of the body, mainly in deep large veins was examined (Arruda et al 1997).…”

Section: Discussionmentioning

confidence: 99%

“…A number of investigations have been done to identify whether the thermolabile mutant, MTHFR C677T causes an increased risk for cardiovascular disease. Some results suggest such a correlation (Morita et al 1997;Kang et al 1988Kang et al , 1991Gallagher et al 1996;Kluijtmans et al 1996), whereas others do not (Verhoef et al 1997;Anderson et al 1997;Ma et al 1996;Deloughery et al 1996;van Bockxmeer et al 1997;Christensen et al 1997;Wilcken et al 1996;Adams et al 1996;Brugada & Marian;1997). Arruda et al have shown that there is a correlation between homozygosity for the MTHFR C677T mutation and venous thromboembolic disease (Arruda et al 1997).…”

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confidence: 99%

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Hyperhomocysteinemia and the MTHFR C677T mutation in central retinal vein occlusion

Larsson

Hultberg

Hillarp³

2000

Acta Ophthalmologica Scandinavica

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ABSTRACT.Background: Hyperhomocysteinemia is a factor that predisposes to thrombosis, and the C677T mutation in methylene-tetrahydrofolate reductase (MTHFR) is known to give increased plasma homocysteine. We wanted to investigate if these factors were overrepresented in a group of patients with central retinal vein occlusion. Methods: 116 patients with a history of central retinal vein occlusion were examined for the presence of hyperhomocysteinemia and the MTHFR C677T mutation. Results: Compared to the control groups, there was no significant increase, neither in plasma homocysteine nor in the frequency of the MTHFR C677T mutation in the patients. Even when we looked selectively at the young patients, age less than 50 years, no difference could be detected. Conclusion: It seems that neither hyperhomocysteinemia nor the MTHFR C677T mutation is an important risk factor for the aetiology of central retinal vein occlusion.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Hyperhomocysteinemia and the MTHFR C677T mutation in central retinal vein occlusion

Larsson

Hultberg

Hillarp³

2000

Acta Ophthalmologica Scandinavica

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“…Furthermore, even in populations with the highest prevalence of homozygous CS-defi ciency, such as in Ireland, the calculated number of carriers is too low to account for the number of observed hyperhomocysteinemic vascular patients [29]. Indeed, very recently, it was reported that the finding of lowered CS-activity was not repro ducible in 96% of studied hyperhomocysteinemic to produce a MTHFR patients and lively [30], [13,14]. s, i.e.…”

Section: Vascular Complications In Family Membersmentioning

confidence: 99%

Prevalence of familial mild hyperhomocysteinemia

et al. 1996

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Previous studies have shown that elevated basal homocysteine levels are correlated among family members of patients with coronary vascular disease and juvenile venous thrombosis. This suggests the possibility of the presence of inherited basal mild hyperhomocysteinemia (mHH). We studied homocysteine levels, fasting as well as after methionine load, among 96 family members of 21 post-load hyperhomocysteinemic vascular index patients, i.e. 6 parents, 27 offspring, 38 siblings, 19 uncles and aunts and 6 cousins. In 15 out of 21 screened families post-load ml-IH was esti in at least one family member. Fa:>ting and post-load mHH was observed in 19 out of 89 (21%) screened family members (fasting homocysteine levels not measured in seven family members), and 31 out of 96 screened family members (32%), respectively. In 40% of all family members, post-load mHH was not accompanied by fasting mHH.conclude that both fasting and post-load mHH seems to be inherited in the majority of ic vascular patients.

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“…The most common C677T polymorphism, changing alanine to valine in position 222, leads to a thermolabile form of MTHFR with reduced enzyme activity. 6,7 Homozygosity for this 677T variant was shown to be associated with increased plasma Hcy levels, particularly when folate status is low, 8,9 and it has been described as a risk factor for CAD, although this association is not clearly established at present. 10 Recently, we have demonstrated that the 677TT genotype was also associated with DNA damage in patients with CAD and a positive relation was found between plasma Hcy levels and micronucleus (MN) frequency as well.…”

Section: Introductionmentioning

confidence: 99%

Genetic polymorphisms in folate and homocysteine metabolism as risk factors for DNA damage

et al. 2003

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Epidemiological studies indicated a role for polymorphisms in genes of folate and homocysteine (Hcy) metabolism in the etiology of neurodegenerative disease, congenital defects and coronary artery disease (CAD). This study investigated the effect of several polymorphisms [C677 T, A1298C of methylenetetrahydrofolate reductase (MTHFR) and A66G of methionine synthase reductase (MTRR) genes] on Hcy levels and DNA damage in 68 patients who underwent coronary angiography. Plasma Hcy concentrations were higher in patients with multivessel disease with respect to monovessel disease and no-CAD patients (19.472.6 vs 11.671.2 and 13.771.4 lmol/l, respectively; P ¼ 0.03). 677TT patients had higher Hcy levels than those with 677CC or 677CT genotypes (26.274.3 vs 13.171.4 and 13.071.4 lmol/l, respectively; P ¼ 0.0006). No significant associations were found between A1298C and A66G polymorphisms and plasma Hcy levels. Among patients with 677CC genotype, 66GG individuals tended to have higher levels of Hcy than 66AA homozygotes (14.571.9 vs 8.970.7 lmol/l, P ¼ 0.06). Multivessel disease patients showed an increased frequency of DNA damage, measured by the micronucleus (MN) frequency, as compared to monovessel disease and no-CAD subjects (12.571.1 vs 8.570.8 and 8.270.9, respectively; P ¼ 0.006). The MN were positively correlated with Hcy levels (r ¼ 0.33, P ¼ 0.006) and were significantly higher in subjects with the 677TT genotype compared with the 677CC or 677CT genotypes (14.472.0 vs 8.871.2 and 9.570.7, respectively; P ¼ 0.006). A1298C and A66G polymorphisms had no effect on MN frequency. However, among 677TT patients, 66GG subjects tended to have higher levels of MN than those 66AG and 66AA (18.273.6 vs 13.874.0 and 10.371.7, respectively; P ¼ NS). Our results indicate that genetic instability may be associated with increased risk for multiple Hcy-related diseases.

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Thermolabile methylenetetrahydrofolate reductase in patients with coronary artery disease

Cited by 210 publications

References 9 publications

Hyperhomocysteinemia and the MTHFR C677T mutation in central retinal vein occlusion

Hyperhomocysteinemia and the MTHFR C677T mutation in central retinal vein occlusion

Prevalence of familial mild hyperhomocysteinemia

Genetic polymorphisms in folate and homocysteine metabolism as risk factors for DNA damage

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