Association of MTHFR A1298C polymorphism (but not of MTHFR C677T) with elevated homocysteine levels and placental vasculopathies

Klai, Sarra; Fekih-Mrissa, Najiba; Housaini, Sonia El; Kaabechi, Naziha; Nsiri, Brahim; Rachdi, R; Gritli, Nasredine

doi:10.1097/mbc.0b013e328344f80f

Cited by 56 publications

(71 citation statements)

References 25 publications

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“…Our finding is consistent with the latest study by Nair et al (2012); they suggested a significant risk of pregnancy loss associated with MTHFR A1298C polymorphism. Furthermore, another study indirectly supported our finding (Klai et al 2011). Klai et al revealed that MTHFR A1298C polymorphism, but not MTHFR C677T polymorphism, has been associated with elevated Hcy levels and placental vasculopathies.…”

Section: Discussionsupporting

confidence: 86%

The association of idiopathic recurrent early pregnancy loss with polymorphisms in folic acid metabolism-related genes

et al. 2014

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The aim of this study was to investigate the association between polymorphisms in folic acid metabolism-related genes and idiopathic recurrent early pregnancy loss (REPL). A prospective case-control study was performed on a cohort of 82 REPL patients and 166 healthy controls. Genotyping of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C was assessed by applying polymerase chain reaction for amplification followed by DNA sequencing, for methionine synthase reductase A66G, solute carrier family 19, member 1 (SLC19A1) G80A and C696T, and genotyping was done by utilizing the Sequenom MassARRAY system. The results revealed a significant association between MTHFR A1298C polymorphism and idiopathic REPL. Haplotype analysis indicated that the MTHFR 677C-MTHFR 1298C allele combination was associated with REPL (P \ 0.001). The MTHFR 677C-MTHFR 1298A and SLC19A1 80G-SLC19A1 696C allele combinations had lower frequencies in patients with REPL, but with P [ 0.05 (P = 0.093 and P = 0.084, respectively).

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Section: Discussionsupporting

confidence: 86%

The association of idiopathic recurrent early pregnancy loss with polymorphisms in folic acid metabolism-related genes

et al. 2014

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“…Meanwhile, Sukla et al (2013) found that the maternal MTHFR 677T allele and vitamin B 12 and folate deficiencies were independently associated with a twofold increased risk of low birth weight in Indian children. Women with MTHFR 1298 A[C polymorphism have an increased risk of placental vasculopathies (Klai et al 2011) and idiopathic recurrent early pregnancy loss (Cao et al 2014); however, available information on this polymorphism and infant anthropometric parameters is scarce.…”

Section: Introductionmentioning

confidence: 99%

Maternal dietary intake of folate, vitamin B12 and MTHFR 677C>T genotype: their impact on newborn’s anthropometric parameters

et al. 2014

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In this study, we evaluated the effects of dietary intake of vitamin B 12 and folate during pregnancy and their interactions with maternal polymorphism of MTHFR (677C[T; 1298A[C) on intrauterine development. Anthropometric parameters were obtained from 231 newborns that belong to a prospective birth cohort in Morelos, Mexico. Maternal dietary intake of vitamin B 12 and folate was assessed using a semi-quantitative questionnaire administered during the first and third trimesters of the pregnancy. Maternal MTHFR 677C[T and 1298 A[C genotypes were determined by PCR-RFLP. The associations between deficient dietary intake of vitamin B 12 (\2.0 lg/d) and folate (\400 lg/d) in the first and third trimesters and maternal polymorphisms of MTHFR on anthropometric parameters at birth were estimated using a multivariate linear regression model. During pregnancy, the deficient dietary intake was roughly 60 % for folate and 19 % for vitamin B 12 . Allelic frequencies of 677T and 1298C were 59 and 10 %, respectively. After adjusting for confounders, deficiency in maternal dietary intake of vitamin B 12 (\2.0 lg/d) was associated with a significant reduction in length (b * -2.4; 95 % CI -4.3; -0.6) and length-for-age at birth (b * -1.2; 95 % CI -2.3; -0.1) among infants whose mothers were carriers of the 677TT genotype (p for interaction = 0.02). In contrast, no association was observed between deficiency in maternal dietary intake of folate (\400 lg/d) and any anthropometric parameter of newborns. These results suggest that supplementation with vitamin B 12 during pregnancy could have a favorable impact on intrauterine fetal development mainly in populations that are genetically susceptible.

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“…1), including 7398/11222 cases/controls for MTHFR C677T (Table 1) and 1103 /988 cases/controls for MTHFR A1298C (Table 3, Table 4). The distribution of genotypes in the controls of the studies was in agreement with HardyWeinberg equilibrium, except for four studies [11,33,45,46]. The search results were combined and duplicates were removed.…”

Section: Eligible Studiesmentioning

confidence: 99%

Folate metabolism gene polymorphisms MTHFR C677T and A1298C and risk for preeclampsia: a meta-analysis

Yang

Tang

et al. 2015

J Assist Reprod Genet

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Objectives MTHFR C677T and A1298C have been associated with the risk of preeclampsia (PE), but with conflicting results. We performed this meta-analysis to derive a more precise estimation of the association between MTHFR polymorphisms and PE. Study design An electronic search of PubMed and Chinese Biomedicine database was conducted to select studies for meta-analysis. 54 case controlled studies containing MTHFR C677T and A1298C gene polymorphisms were chosen, and odds ratio (OR) with confidence interval (CI) was used to assess the strength of this association. Result These studies evaluated 7398 cases and 11230 controls for MTHFR C677T. The overall results suggested that MTHFR C677T was associated with the risk of PE. (T vs. C: OR = 1.157, 95 % CI: 1.057-1.266, p=0.002; TT+CT vs. CC: OR=1.165, 95 % CI 1.049-1.293, P = 0.004; TT vs. CT + CC: OR = 1.371, 95 % CI: 1.153-1.63, p < 0.001). We also evaluated 1103 cases and 988 controls for MTHFR A1298C but could not demonstrate an increased risk of PE for this polymorphism (p=0.667). A symmetric funnel plot, the Egger's test (p = 0.819) suggested a lack of publication bias. ConclusionThis meta-analysis supports the idea that MTHFR C677T genotype is associated with increased risk for PE, especially in the case of Asians and Caucasians.

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Association of MTHFR A1298C polymorphism (but not of MTHFR C677T) with elevated homocysteine levels and placental vasculopathies

Cited by 56 publications

References 25 publications

The association of idiopathic recurrent early pregnancy loss with polymorphisms in folic acid metabolism-related genes

The association of idiopathic recurrent early pregnancy loss with polymorphisms in folic acid metabolism-related genes

Maternal dietary intake of folate, vitamin B12 and MTHFR 677C>T genotype: their impact on newborn’s anthropometric parameters

Folate metabolism gene polymorphisms MTHFR C677T and A1298C and risk for preeclampsia: a meta-analysis

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