Hyperhomocysteinaemia, Low Folate Concentrations and Methylene Tetrahydrofolate Reductase C677T Mutation in Acute Mesenteric Venous Thrombosis

He, Jingni; Hu, Xiao; Fan, Yibo; Yang, Jun; Zhang, Z.S.; Liu, C.W.; Yang, Dong Ho; Zhang, J.; Xin, Shijie; Zhang, Q.; Duan, Zhi-quan

doi:10.1016/j.ejvs.2009.09.014

Cited by 17 publications

(19 citation statements)

References 32 publications

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“…The most common genetic risk factors for the development of VTE include the transitions G1691A in coagulation factor V (FV) and G20210A in coagulation factor II (FII) (also known as prothrombin gene) (Rosendorff and Dorfman, 2007). The C677T polymorphism in the gene encoding the enzyme methylenetetrahydrofolate reductase (MTHFR) may contribute to the etiology of VTE; study results have been inconsistent (Nizankowska-Mogilnicka et al, 2003;Almawi et al, 2005;Torres et al, 2006;Alfirevic et al, 2010;He et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

“…Previous studies have shown that decreased levels of serum folate are a downstream result of this protein variation. Since serum folate is required for the conversion of homocysteine to methionine, these lowered levels ultimately result in a state of hyperhomocysteinemia, a condition that favors the formation of thrombi and stems from lesion formation in the vascular endothelium and the activation of the coagulation cascade (Dionisio et al, 2010;He et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

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Prevalence of variants that confer risk for venous thromboembolism in an elderly population of northeastern Brazil

Ferreira-Fernandes

Costa²,

Fernandes³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Venous thromboembolism (VTE) is an important cause of morbidity and mortality stemming from cardiovascular disease. It is a multifactorial disease caused by a combination of acquired risk factors, of which advanced age is the most significant, and genetic factors, including the variants FV G1691A, FII G20210A, and MTHFR C677T. We estimated the prevalence of these genomic variants in an elderly population of northeastern Brazil. The study included 188 elderly persons (65-93 years), of which 68 (36.2%) were men and 120 (63.8%) were women. Variants were detected by polymerase chain reaction-3699 FV G1691A, FII G20210A, and MTHFR C677T in the elderly ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 12 (3): 3698-3707 (2013) restriction fragment length polymorphism analysis, and subsequent electrophoresis on an 8% polyacrylamide gel stained with silver nitrate. The study population was in Hardy-Weinberg equilibrium for the 3 loci. Of the individuals analyzed, none carried variants of FV or FII (0%), and 24.7% had the MTHFR C677T polymorphism: 59 subjects (31.4%) were heterozygous (CT) and 17 subjects (9%) were homozygous (TT). Based on the analysis of these particular genes, we conclude that the study population does not present an increased risk for the development of VTE. Faced with a growing aging population worldwide, similar studies in other countries will help in the prevention of VTE in older individuals.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Prevalence of variants that confer risk for venous thromboembolism in an elderly population of northeastern Brazil

Ferreira-Fernandes

Costa²,

Fernandes³

et al. 2013

Genet. Mol. Res.

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“…The MTHFR C677T polymorphism has a high prevalence in the general population, with the frequency of heterozygotes in patients with thrombotic disease ranging between 33.6 and 51.9% in different ethnic groups (Markus et al, 1997;Morita et al, 1998;Harmon et al, 1999;Lalouschek et al, 1999;Fujimura et al, 2000;Hanson et al, 2001;Lopaciuk et al, 2001;Wu et al, 2001;Zhang and Dai, 2001;Li et al, 2002;Marcucci et al, 2003;He et al, 2010;Alves Jacob et al, 2011). In Brazilian populations of the states of Goiás and Rio de Janeiro, this frequency has been reported around 34% (Rocha, 2009;Alves Jacob et al, 2011), while in US patients of mixed ancestry with DVT (Hanson et al, 2001), a frequency of 46% was closer to and homogeneous with that found in our study.…”

Section: Discussionmentioning

confidence: 99%

Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes

et al. 2017

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ABSTRACT. High plasma homocysteine (Hcy) levels may be responsible for vaso-occlusive episodes and may have acquired and/or genetic causes. This cross-sectional study aimed to investigate the role of methylenetetrahydrofolate reductase (MTHFR; C677T; A1298C) and cystathionine-b-synthase (CBS; T833C/844ins68, G919A) polymorphisms in serum levels of folic acid, vitamin B12 and Hcy, and to verify a possible association between these polymorphisms and the clinical variability. Blood samples of Brazilian patients with a diagnosis of thrombosis were submitted to genotyping by PCR-based methods and serum dosages of folic acid, vitamin B12 and Hcy. Except for the CBS G919A polymorphism, all other genetic markers were in HardyWeinberg equilibrium. An increased risk for venous thrombosis was found for the MTHFR 1298CC carriers (OR = 1.688; 95%CI = 0.839-3.398, P = 0.018) and those homozygously mutant for the CBS haplotype 844ins68/T833C (OR = 2.488; 95%CI = 0.501-12.363, P = 0.031), while heterozygous for this CBS haplotype showed an increased risk for higher Hcy levels (OR = 5.900; 95%CI = 1.003-34.691, P = 0.030). Significant interactions were observed among the MTHFR C677T, MTHFR A1298C and CBS haplotype 844ins68/T833C polymorphisms in the results for Hcy levels (P = 0.000), where heterozygous had higher values. Interactions among these polymorphisms can affect serum Hcy levels, where multiple heterozygosis could be a risk factor for vasoocclusive episodes.

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“…Any disturbance in the normal physiology of gestation, such as infectious agents (brucella abortus, neospora caninum, bovine viral diarrhea virus, leptospirosis, toxoplasma gondii and trypanosoma evansi), toxins, hormonal imbalance, vaccinations, poor nutrition, chromosomal disturbances and physical influences may lead to abortion (Anderson, 2007;Givens and Marley, 2008;Neta et al, 2009;Reiterova et al, 2009;Zhu et al, 2009). The polymorphisms of MTHFR were associated with many human diseases, especially hyperhomocysteinaemia (He et al, 2009), spontaneous abortion (Zetterberg et al, 2003), early spontaneous embryo loss (Callejon et al, 2007), and recurrent pregnancy loss (Govindaiah et al, 2009). Based on the multiple functions of MTHFR, we proposed that the polymorphisms were also associated with unexplained abortion in Chinese Holstein cattle.…”

Section: Effects Of Polymorphisms On Relative Risk Of Abortionmentioning

confidence: 99%

Methylenetetrahydrofolate reductase (MTHFR) gene polymorphism is associated with abortion in Chinese Holstein cows

Song¹,

Sun²,

Yang³

et al. 2011

Afr. J. Biotechnol.

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Polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene are associated with abortion, early embryo loss and recurrent spontaneous abortion in human. However, information on the association between MTHFR polymorphism and cow abortion is scarce. In the present study, the effects of MTHFR polymorphism on cow abortion were investigated. The PCR-SSCP and DNA sequencing were applied to detect the polymorphisms in exon 4 and 7 of MTHFR gene in a total of 569 Chinese Holstein cattles. The homocysteine levels during various periods of pregnancy were detected by HPLC. The results show that 8137C/T SNP was identified in exon 7 of MTHFR, but no polymorphism was detected in exon 4. Association analysis revealed that the 8137C/T mutation was significantly associated with cow abortion (P = 0.0002). Regarding relative risk of incidence, cows with CT genotype showed greater relative risk than those with CC (OR = 2.05, 95% CI = 1.40 to 3.00). The blood homocysteine levels of individuals with CT genotype were significantly higher than those with CC genotype during the first 6 months of pregnancy and in non-pregnant cows (P < 0.05). In conclusion, MTHFR may be a beneficial candidate gene to control cow abortion.

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Hyperhomocysteinaemia, Low Folate Concentrations and Methylene Tetrahydrofolate Reductase C677T Mutation in Acute Mesenteric Venous Thrombosis

Abstract: Hyper-Hcy and low serum folate levels were associated with an increased risk of AMVT. The homozygous (TT) genotype of MTHFR gene mutation may be a crucial hereditary risk factor in the development of AMVT for a Chinese population.

Cited by 17 publications

References 32 publications

Prevalence of variants that confer risk for venous thromboembolism in an elderly population of northeastern Brazil

Prevalence of variants that confer risk for venous thromboembolism in an elderly population of northeastern Brazil

Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes

Methylenetetrahydrofolate reductase (MTHFR) gene polymorphism is associated with abortion in Chinese Holstein cows

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