Common Mutations at the Homocysteine Metabolism Pathway and Pediatric Stroke

Akar, Nejat; Akar, Ece; Özel, Duygu; Deda, Gülhıs; Sipahi, Tansu

doi:10.1016/s0049-3848(01)00226-2

Cited by 80 publications

(43 citation statements)

References 18 publications

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“…As a result, the MTHFR 677 and 1298 genotype distribution was available in a total of 22 manuscripts (Akar et al 2001;Barber et al 2000;Chango et al 2000;Fodinger et al 2000;Friedman et al 1999;Hanson et al 2001;Kaiser et al 2000;Lachmeijer et al 2001;Meisel et al 2001;Rady et al 1999;Richter et al 2001;Shen et al 2001;Skibola et al 1999;Song et al 2001;Szczeklik et al 2001;van der Put et al 1998;Weisberg et al 1998;Wiemels et al 2001;Zusterzeel et al 2000) (Table 1). To obtain the MTHFR genotype distribution in the general population, we used 19 different control populations, which included healthy adults, infants, and neonates, from 16 manuscripts (population "W1") (Akar et al 2001;Barber et al 2000;Chango et al 2000;Fodinger et al 2000;Friedman et al 1999;Kaiser et al 2000;Lachmeijer et al 2001;Meisel et al 2001;Rady et al 1999;Richter et al 2001;Shen et al 2001;Skibola et al 1999;Szczeklik et al 2001;van der Put et al 1998;Wiemels et al 2001;Zusterzeel et al 2000). We excluded data derived from Chinese populations (Song et al 2001) because only 17% (123/724) of MTHFR alleles in the control northern Chinese population ...…”

Section: Selection Of Populations For Meta-analysis Of Mthfr Genotypementioning

confidence: 99%

Genotype and haplotype distributions of MTHFR 677C>T and 1298A>C single nucleotide polymorphisms: a meta-analysis

2003

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Section: Selection Of Populations For Meta-analysis Of Mthfr Genotypementioning

confidence: 99%

Genotype and haplotype distributions of MTHFR 677C>T and 1298A>C single nucleotide polymorphisms: a meta-analysis

2003

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“…1. Finally, eight case-control studies were included in the meta-analysis with a total number of 426 paediatric patients with AIS and 778 control subjects [12][13][14][20][21][22][23][24].…”

Section: Methodsmentioning

confidence: 99%

“…Caucasians were the most common race. In order to genotype the MTHFR 1298A>C polymorphism, PCR-RFLP analysis was used in four of the studies [12,13,20,21], CVD StripAssays in two studies [14,22] and Taqman PCR in one study [23]. The genotyping method was not specified in one of the studies [24].…”

Section: Study Characteristicsmentioning

confidence: 99%

Is the 1298A>C polymorphism in the MTHFR gene a risk factor for arterial ischaemic stroke in children? The results of meta-analysis

2018

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An elevated level of homocysteine is a risk factor for vascular diseases, brain atrophy and several other disorders. The 1298A>C polymorphism (rs1801131) leads to mildly decreased MTHFR activity. Previously, it was observed that the MTHFR 1298A>C polymorphism in combined analysis with the MTHFR 677C>T polymorphism increases homocysteine levels. However, conflicting results on its relation to ischaemic stroke in children can be found. We conducted a meta-analysis to analyse possible connections between the MTHFR 1298A>C polymorphism and ischaemic stroke in paediatric patients. We identified available data published before December 2016 using appropriate keywords and searching PubMed as well as the references cited in the found articles. Eight case-control studies were included in the meta-analysis (426 children with stroke and 778 controls). Statistical analyses were made using R and Comprehensive Meta-Analysis softwares to investigate the impact of polymorphism in four models: dominant, recessive, additive and allelic. No publication bias was observed in the meta-analysis. We demonstrated no relationship between the 1298A>C polymorphism and ischaemic stroke in children in the case of recessive, additive and allelic models. However, the results of the dominant model analysis should be treated with caution due to the sensitivity analysis results. After omitting one of the included study, we observed a significant association between the carriers of the MTHFR C allele (cases with AC + CC genotypes) and ischaemic stroke in children (OR 1.35 95% CI 1.02-1.79, p = 0.035 in a fixed effects model). In conclusion, the 1298A>C polymorphism in the MTHFR gene is not a risk factor for ischaemic stroke in paediatric patients.

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“…Of the determined underlying causes, the polymorphisms at the genes of the enzymes involved in homocysteine metabolism may confer an increased risk for thrombosis by causing hyperhomocysteinemia. Population-based studies revealed that neither of the risk alleles (MTHFR C677T and MTHFR A1298C) of the homocysteine metabolism-related genes alone increased the risk for the occurrence of stroke [2]. Same results were obtained at Italian patients, Dragoni et al [3] found that the prevalence of each polymorphisms were not different in patients and controls.…”

mentioning

confidence: 89%

“…On the other hand, the etiology of cerebral infarction in about one third of the patients cannot be determined [2,3]. Of the determined underlying causes, the polymorphisms at the genes of the enzymes involved in homocysteine metabolism may confer an increased risk for thrombosis by causing hyperhomocysteinemia.…”

mentioning

confidence: 99%