<i>Methylene tetrahydrofolate reductase</i> polymorphisms and homocysteine level in heart defects

Şahiner, Ümit Murat; Alanay, Yasemin; Alehan, Dursun; Tunçbılek, Ergül; Alikaşifoğlu, Mehmet

doi:10.1111/ped.12222

Cited by 12 publications

(10 citation statements)

References 29 publications

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“…Figure 1 shows the process of study selection and exclusion, with specification of reasons. Finally, 35 studies that met the inclusion criteria, corresponding to 9,329 CHD children and 15,076 normal controls, 3,232 mothers with CHD offspring and 27,174 normal controls for the C677T polymorphism and 1,761 CHD children and 1,868 normal controls/705 mothers with CHD offspring and 15,458 controls for the A1298C polymorphism, were considered in the meta-analysis 15 17 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 . The main characteristics of the included studies are listed in Table 1 – 2 .…”

Section: Resultsmentioning

confidence: 99%

Association Between MTHFR Polymorphisms and Congenital Heart Disease: A Meta-analysis based on 9,329 cases and 15,076 controls

Xuan

Zhao

et al. 2014

Sci Rep

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The aim of our study was to evaluate the association between polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and the risk for congenital heart disease (CHD). Electronic literature databases were searched to identify eligible studies published before Jun, 2014. The association was assessed by the odds ratio (OR) with a 95% confidence interval (CI). The publication bias was explored using Begg's test. Sensitivity analysis was performed to evaluate the stability of the crude results. A total of 35 studies were included in this meta-analysis. For the MTHFR C677T polymorphism, we detected significant association in all genetic models for Asian children and the maternal population. Significant association was also detected in T vs. C for a Caucasian paediatric population (OR = 1.163, 95% CI: 1.008–1.342) and in both T vs. C (OR = 1.125, 95% CI: 1.043–1.214) and the dominant model (OR = 1.216, 95% CI:b1.096–1.348) for a Caucasian maternal population. For the MTHFR A1298C polymorphism, the association was detected in CC vs. AC for the Caucasian paediatric population (OR = 1.484, 95% CI: 1.035–2.128). Our results support the MTHFR -677T allele as a susceptibility factor for CHD in the Asian maternal population and the -1298C allele as a risk factor in the Caucasian paediatric population.

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Section: Resultsmentioning

confidence: 99%

Association Between MTHFR Polymorphisms and Congenital Heart Disease: A Meta-analysis based on 9,329 cases and 15,076 controls

Xuan

Zhao

et al. 2014

Sci Rep

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“…Because of MTHFR's pivotal role in many aspects of normal gene function ( Figure 1A), including homocysteine levels (an established risk factor for vascular disease 19 ), it is not surprising that MTHFR gene polymorphisms may have dramatic effects on normal cellular function and that increasingly these are implicated in various diseases, including major depressive disorder, congenital heart diseases, breast cancer, leukemia and others. [20][21][22] The MTHFR C677T single nucleotide polymorphism (rs1801133) involves a C ! T transition at nucleotide 677 in exon 4 and is a common gene variant of MTHFR that includes CC, CT and TT genotypes and C and T alleles.…”

Section: Introductionmentioning

confidence: 99%

Methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism and diabetic nephropathy susceptibility in patients with type 2 diabetes mellitus

Zhou

Drummen²,

Jiang

et al. 2015

Renal Failure

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Methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme that regulates nucleotide synthesis and DNA methylation. The MTHFR C677T gene polymorphism (rs1801133), a C ! T transition at nucleotide 677 in exon 4, is a common gene variant of MTHFR and has been implicated in diabetic nephropathy, albeit with inconsistent results. Here, we performed a meta-analysis to assess the common effect size of this polymorphism on DN susceptibility. Case-control studies on the association of the MTHFR C677T gene polymorphism with DN risk were retrieved from databases up to August 1, 2013, and eligible studies were recruited into the meta-analysis and further analyzed. Of 132 studies, 33 were identified as suitable for this analysis. The results showed that T allele and TT genotype were distinctly associated with DN susceptibility in the overall population and Asians, and might be a risk factor in Caucasians and Africans (T allele: Overall population: p50

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“…Of these 16 articles, 6 were conducted in Asia [ 12 , 15 – 17 , 19 , 20 , 24 , 25 ], 6 in Europe [ 21 – 23 , 27 ], 3 in America [ 13 , 14 , 18 ] and 1 in Africa [ 12 ]. The distribution of the genotypes in the control groups was consistent with HWE except for 4 studies [ 12 , 16 , 20 , 26 ]. The patients in 2 cases included studies accompanied by Down syndrome (DS) [ 27 ] [ 18 ].…”

Section: Resultsmentioning

confidence: 99%

MTHFR A1298C polymorphisms reduce the risk of congenital heart defects: a meta-analysis from 16 case-control studies

Zhuang

Wen

et al. 2017

Ital J Pediatr

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BackgroundMethylenetetrahydrofolate reductase (MTHFR) plays a crucial role in the hyperhomocysteinemia, which is a risk factor related to the occurrence of congenital heart defect (CHD). However, the association between MTHFR polymorphism and CHD has been inconclusive.MethodsWe conducted an updated meta-analysis to provide comprehensive evidence on the role of MTHFR A1298C polymorphism in CHD. Databases were searched and a total of 16 studies containing 2207 cases and 2364 controls were included.ResultsWe detected that a significant association was found in the recessive model (CC vs. AA + AC: OR = 1.38, 95% CI: 1.10–1.73) for the overall population. Subgroup analysis showed that associations were found in patients without Down Syndrome in genetic models for CC vs. AA (OR = 1.47, 95% CI: 1.01–2.14), CC vs. AC (OR = 1.29, 95% CI: 1.00–1.66) and recessive model (OR = 1.44, 95% CI: 1.14–1.82). We conducted a meta-regression analysis, Galbraith plots and a sensitivity analysis to assess the sources of heterogeneity.ConclusionsIn summary, our present meta-analysis supports the MTHFR 1298C allele as a risk factor for CHD. However, further studies should be conducted to investigate the correlation of plasma homocysteine levels, enzyme activity, and periconceptional folic acid supplementation with the risk of CHD.Electronic supplementary materialThe online version of this article (10.1186/s13052-017-0425-1) contains supplementary material, which is available to authorized users.

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Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects

Cited by 12 publications

References 29 publications

Association Between MTHFR Polymorphisms and Congenital Heart Disease: A Meta-analysis based on 9,329 cases and 15,076 controls

Association Between MTHFR Polymorphisms and Congenital Heart Disease: A Meta-analysis based on 9,329 cases and 15,076 controls

Methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism and diabetic nephropathy susceptibility in patients with type 2 diabetes mellitus

MTHFR A1298C polymorphisms reduce the risk of congenital heart defects: a meta-analysis from 16 case-control studies

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