Homocysteine, 5,10-méthylénetétrahydrofolate reductase et thrombose veineuse profonde. Enquête auprès de 120 patients en médecine interne

Quéréé, I.; Chassé, Jean-François; Dupuy, Évelyne; Bellet, E.; Molho-Sabatier, P; Tobelem, G; Janbon, C

doi:10.1016/s0248-8663(97)83696-x

Cited by 14 publications

(5 citation statements)

References 11 publications

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“…In contrast, other studies have failed to demonstrate any association between the MTHFR mutation and VTE occurrence [10, 11, 12, 16, 18, 19]. Notably, the prevalence of the mutation in its homozygous state was similar in the 471 patients with diagnosed VTE and in the 474 control subjects from the Leiden Thrombophilia Study [12].…”

Section: Discussionmentioning

confidence: 93%

“…Notably, the prevalence of the mutation in its homozygous state was similar in the 471 patients with diagnosed VTE and in the 474 control subjects from the Leiden Thrombophilia Study [12]. In the study performed by Quéré et al [11], blood samples of patients with VTE and control subjects were tested both for C677T mutation in the MTHFR gene and for plasma homocysteine level: mild hyperhomocysteinemia appeared as a risk factor of VTE, the mean plasma homocysteine level was significantly higher in homozygous individuals than in heterozygous or normal individuals, but the prevalence of the MTHFR mutation in the homozygous state was similar in patients and controls. One explanation for these discrepancies may lie in the interaction between folate status and genetic conditions.…”

Section: Discussionmentioning

confidence: 99%

“…In their study, homozygous individuals for the mutation had significantly elevated plasma homocysteine levels. Interestingly, the prevalence of the MTHFR mutation is quite high in Western countries, ranging from 4 to 18% in the homozygous state and 38 to 50% in the heterozygous state [9, 10, 11, 12]. …”

Section: Introductionmentioning

confidence: 99%

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Methylenetetrahydrofolate Reductase C677T Genotype and Venous Thromboembolic Disease

Couturaud

Oger

Abalain³

et al. 2000

Respiration

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Background: Many studies have suggested an increased risk of venous thromboembolism (VTE) in patients with mild hyperhomocysteinemia. The C677T mutation in the MTHFR gene has recently been described as a cause of mild hyperhomocysteinemia.Objectives: To investigate the potential of the C677T mutation in the MTHFR gene in its homozygous state as a risk factor for VTE. Methods: Case-control study design. The presence of the mutation was determined in all consecutive patients referred from July 1994 to September 1997 and in whom the diagnosis was duly confirmed. Analysis was carried out in a subgroup of VTE patients free from both acquired and genetic risk factors (factor-V mutation and/or prothrombin gene mutation). A control group consisted of 105 volunteer blood donors. Results: In the 366 patients with a confirmed VTE, 253 presented acquired risk factors and 58 were carriers of the factor-V Leiden mutation and/or G20210A mutation of the prothrombin gene. In the remaining 55 patients, VTE was considered as ’unexplained’, and the frequency of the C677T mutation MTHFR was 21.8% in its homozygous state and 34.5% in its heterozygous state. In the control group, 9.5% were found homozygous and 34.3% heterozygous. The odds ratio for having VTE in the presence of the mutation in its homozygous state was 2.9 (95% CI 1.0–8.6). Conclusion: This study suggests that the homozygous C677T mutation in the MTHFR gene might be a risk factor of VTE in patients with spontaneous events and without other common genetic risk factors.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

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Methylenetetrahydrofolate Reductase C677T Genotype and Venous Thromboembolic Disease

Couturaud

Oger

Abalain³

et al. 2000

Respiration

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“…Retrospective studies were selected in which individual serum homocysteine levels in age-matched cases and controls were published (generally in the form of individual data points in plots). Such data were obtained from 2429 cases for ischaemic heart disease (seven studies) [17][18][19][20][21][22][23] and 781 cases for deep vein thrombosis (five studies) [24][25][26][27][28][29]. Dose-response relationships were obtained by ranking the cases and separately the controls from all the study populations combined according to the homocysteine measurements, dividing the controls into four equal groups according to increasing serum homocysteine, and using the same homocysteine cut-off values that defined these four groups to divide the cases into four groups.…”

Section: Methodsmentioning

confidence: 99%

The dose-response relation between serum homocysteine and cardiovascular disease: implications for treatment and screening

Wald¹,

Law²,

Morris³

2004

European Journal of Cardiovascular Prevention & Rehabilitat

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“…[111][112][113] It is controversial whether this MTHFR variant is a risk factor for cardiovascular disease. [114][115][116] Although associated with hyperhomocysteinemia, when MTHFR 677TT is not itself a risk factor for thrombosis, the causality of the association between hyperhomocysteinemia and thrombosis becomes doubtful.…”

Section: Hyperhomocysteinemiamentioning

confidence: 99%

Risk Factors for Venous Thrombotic Disease

Rosendaal¹

1999

Thromb Haemost

312

233

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IntroductionVenous thrombosis occurs in about 1 per 1,000 individuals per year.1,2 It usually affects the deep veins of the leg, but may occur in other sites, such as the upper extremities, cerebral sinus, liver and portal veins, or retinal veins. It also may occur in the superficial veins, usually in the leg. The predilection of thrombosis occurring in the leg is the result of the upright position of man, with the resulting slow antigravitational flow of blood in the veins of the leg. Embolization occurs when parts of the clot dislodge and are transported by the blood flow, usually through the heart to the vasculature of the lungs.3 Thrombosis is a serious disorder. It may be fatal by pulmonary embolism, although this is rare (case fatality rate of venous thrombosis is estimated at 1% to 2%). A common, and often disabling, consequence of deep vein thrombosis is postthrombotic syndrome, with symptoms ranging from discoloration to pain and ulceration.4 Because thrombosis is not very rare and often has serious consequences, prophylactic treatment is focussed on preventing first events and recurrences through adequate knowledge about risks and risk factors.5

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Homocysteine, 5,10-méthylénetétrahydrofolate reductase et thrombose veineuse profonde. Enquête auprès de 120 patients en médecine interne

Cited by 14 publications

References 11 publications

Methylenetetrahydrofolate Reductase C677T Genotype and Venous Thromboembolic Disease

Methylenetetrahydrofolate Reductase C677T Genotype and Venous Thromboembolic Disease

The dose-response relation between serum homocysteine and cardiovascular disease: implications for treatment and screening

Risk Factors for Venous Thrombotic Disease

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