Research Article

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C677T polymorphism; Folate; Homocysteine; MTHFR; Vitamin B12

Association between neural tube defects (NTDs) and C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene was suspected, because the MTHFR gene codes for a key enzyme in folate metabolism. Its deficiency usually leads to significant reductions in plasma concentrations of folate, vitamin B12 and methionine, whereas homocysteine levels are increased. We ... more

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Homocysteine (Hcy) is an independent risk factor of atherosclerosis through its involvement with the methionine cycle. In this study, we aimed to determine the blood vessel global methylation rate in Hcy-induced atherosclerosis in apolipoprotein-E-deficient (ApoE-/-) mice, and to explore the possible mechanism of this change in endothelial cells. ApoE-/- mice were divided into a ... more

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The development of diabetic peripheral neuropathy (DPN) is always followed by changes in vascular endothelial cells that are related to the reactivity of the homocysteine (Hcy) sulfhydryl group. In this meta-analysis, we investigated the association of Hcy with the pathogenesis and progression of DPN. We screened the Embase, Ovid, PubMed, Web of Science, Wangfang, and China National ... more

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2016 Dec 19
Adult; China; Female; Fetal Growth Retardation; Folic acid; Folic Acid Deficiency; Gestational age; Homocysteine; Humans; Infant, Newborn; Pregnancy; Vitamin B 12; Vitamin B 12 Deficiency; Young Adult

Deficiencies in nutrients such as folic acid and vitamin B12 may play a role in fetal growth restriction (FGR). However, whether folic acid, vitamin B12, or homocysteine is associated with FGR in Chinese populations remains unclear. This study investigated the relationship between these nutrient deficiencies and FGR in pregnant Chinese women. We selected 116 mother and infant pairs, and ... more

H.L. Jiang; L.Q. Cao; H.Y. Chen
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Adolescent; Adult; Brazil; Cross-Sectional Studies; Cystathionine beta-Synthase; Epistasis, Genetic; Female; Folic acid; Gene frequency; Genetic predisposition to disease; Genotype; Heterozygote; Homocysteine; Homozygote; Humans; Linkage disequilibrium; male; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Polymorphism, Single Nucleotide; Risk factors; Thrombophilia; Thrombosis; Vitamin B 12; Young Adult

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-β-synthase (CBS; T833C/844ins68, G919A) polymorphisms in serum levels of folic acid, vitamin B12 and Hcy, and to verify a ... more

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Homocysteine; Iron Deficient Anemia; MTHFR Gene Polymorphism

Iron deficiency anemia mostly affects children and adolescents, women of childbearing age and pregnant women due to their high iron requirements. The MTHFR enzyme helps maintain the pool of folate and methionine, avoiding the accumulation of homocysteine. Patients with elevated levels of homocysteine have a wide range of clinical features, including iron anemia, ... more

M.L.P. Nogueira; S.E.A. Lima; R.S. Barbosa; R.L. Resque; A.S.N. Rodrigues; M.R.F. Gomes; D.S. Dantas
Male infertility; Methionine synthase; Methionine synthase reductase; Methylenetetrahydrofolate reductase; Single-nucleotide polymorphism

We examined the association between the methionine synthase reductase (MTRR A66G), methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), and methionine synthase (MS A2756G) genotypes and non-obstructive male infertility in a Chinese population. This case-control study included 162 infertile Chinese patients with azoospermia (N = 100) or ... more

X.Y. Li; J.Z. Ye; X.P. Ding; X.H. Zhang; T.J. Ma; R. Zhong; H.Y. Ren
Cleft lip; Cleft palate; Folic acid; Nonsyndromic; Registry-based cases; Turkey

Oral clefts are one of the most common birth defects in humans. However, few population-based studies of these defects have been carried out in Turkey. Our objective was to determine the registries of cases of cleft lip and palate. All cases of cleft lip and palate referred to central state hospitals in Denizli between January 2000 and May 2010 were investigated retrospectively. Anomalies ... more

A.G. Tomatir; I. Acikbas; B. Akdag; A. Köksal
Folic acid; Neural tube defect; Registry; Spina bifida; Turkey

Neural tube defects (NTD) are among the most common congenital abnormalities, with an incidence of 3 per 1000 live births in Turkey. In a study of major congenital abnormalities in the city of Denizli, Turkey, abnormalities of the central nervous system are particularly common (31.1%). The objective of this study was to develop a registry of cases with NTDs in Denizli. Cases that had been ... more

A.G. Tomatir; K. Vural; I. Acikbas; B. Akdag
bifida; Diabetes; Folic acid; MTHFR; Neural tube defects

Abnormalities in maternal folate and carbohydrate metabolism have both been shown to induce neural tube defects (NTD) in humans and animal models. However, the relationship between these two factors in the development of NTDs remains unclear. Data from mothers of children with spina bifida seen at the Unidad de Espina Bífida del Hospital Infantil Virgen del Rocío (case group) were ... more

N.M. Cadenas-Benitez; F. Yanes-Sosa; A. Gonzalez-Meneses; L. Cerrillos; D. Acosta; J.M. Praena-Fernandez; O. Neth; G. de Terreros; P. Ybot-González