Association between MTHFR Gene Polymorphisms and the Risk of Autism Spectrum Disorders: A Meta-Analysis / Danhua PU in Autism Research, 6-5 (October 2013)  

Public ISBD [article]  inAutism Research > 6-5 (October 2013) . - p.384-392 Titre : Association between MTHFR Gene Polymorphisms and the Risk of Autism Spectrum Disorders: A Meta-Analysis Type de document : Texte imprimé et/ou numérique Auteurs : Danhua PU, Auteur ; Yiping SHEN, Auteur ; Jie WU, Auteur Article en page(s) : p.384-392 Langues : Anglais (eng) Mots-clés : methylenetetrahydrofolate reductase  polymorphism  autism spectrum disorders  folic acidl  meta-analysis Index. décimale : PER Périodiques Résumé : Methylenetetrahydrofolate reductase (MTHFR) is essential for DNA biosynthesis and the epigenetic process of DNA methylation, and its gene polymorphisms have been implicated as risk factors for birth defects, neurological disorders, and cancers. However, reports on the association of MTHFR polymorphisms with autism spectrum disorders (ASD) are inconclusive. Therefore, we investigated the relationship of the MTHFR polymorphisms (C677T and A1298C) and the risk of ASD by meta-analysis. Up to December 2012, eight case-control studies involving 1672 patients with ASD and 6760 controls were included for meta-analysis. The results showed that the C677T polymorphism was associated with significantly increased ASD risk in all the comparison models [T vs. C allele (frequency of allele): odds ratio (OR)?=?1.42, 95% confidence interval (CI): 1.09–1.85; CT vs. CC (heterozygote): OR?=?1.48, 95% CI: 1.09–2.00; TT vs. CC (homozygote): OR?=?1.86, 95% CI: 1.08–3.20; CT+TT vs. CC (dominant model): OR?=?1.56, 95% CI: 1.12–2.18; and TT vs. CC+CT (recessive model): OR?=?1.51, 95% CI: 1.02–2.22], whereas the A1298C polymorphism was found to be significantly associated with reduced ASD risk but only in a recessive model (CC vs. AA+AC: OR?=?0.73, 95% CI: 0.56–0.97). In addition, we stratified the patient population based on whether they were from a country with food fortification of folic acid or not. The meta-analysis showed that the C677T polymorphism was found to be associated with ASD only in children from countries without food fortification. Our study indicated that the MTHFR C677T polymorphism contributes to increased ASD risk, and periconceptional folic acid may reduce ASD risk in those with MTHFR 677CT polymorphism. En ligne : http://dx.doi.org/10.1002/aur.1300 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=218 [article] Association between MTHFR Gene Polymorphisms and the Risk of Autism Spectrum Disorders: A Meta-Analysis [Texte imprimé et/ou numérique] / Danhua PU, Auteur ; Yiping SHEN, Auteur ; Jie WU, Auteur . - p.384-392. Langues : Anglais (eng) in Autism Research > 6-5 (October 2013) . - p.384-392 Mots-clés : methylenetetrahydrofolate reductase  polymorphism  autism spectrum disorders  folic acidl  meta-analysis Index. décimale : PER Périodiques Résumé : Methylenetetrahydrofolate reductase (MTHFR) is essential for DNA biosynthesis and the epigenetic process of DNA methylation, and its gene polymorphisms have been implicated as risk factors for birth defects, neurological disorders, and cancers. However, reports on the association of MTHFR polymorphisms with autism spectrum disorders (ASD) are inconclusive. Therefore, we investigated the relationship of the MTHFR polymorphisms (C677T and A1298C) and the risk of ASD by meta-analysis. Up to December 2012, eight case-control studies involving 1672 patients with ASD and 6760 controls were included for meta-analysis. The results showed that the C677T polymorphism was associated with significantly increased ASD risk in all the comparison models [T vs. C allele (frequency of allele): odds ratio (OR)?=?1.42, 95% confidence interval (CI): 1.09–1.85; CT vs. CC (heterozygote): OR?=?1.48, 95% CI: 1.09–2.00; TT vs. CC (homozygote): OR?=?1.86, 95% CI: 1.08–3.20; CT+TT vs. CC (dominant model): OR?=?1.56, 95% CI: 1.12–2.18; and TT vs. CC+CT (recessive model): OR?=?1.51, 95% CI: 1.02–2.22], whereas the A1298C polymorphism was found to be significantly associated with reduced ASD risk but only in a recessive model (CC vs. AA+AC: OR?=?0.73, 95% CI: 0.56–0.97). In addition, we stratified the patient population based on whether they were from a country with food fortification of folic acid or not. The meta-analysis showed that the C677T polymorphism was found to be associated with ASD only in children from countries without food fortification. Our study indicated that the MTHFR C677T polymorphism contributes to increased ASD risk, and periconceptional folic acid may reduce ASD risk in those with MTHFR 677CT polymorphism. En ligne : http://dx.doi.org/10.1002/aur.1300 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=218

Experimental Tools for the Identification of Specific Genes in Autism Spectrum Disorders and Intellectual Disability / Yiping SHEN  

Public ISBD in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Titre : Experimental Tools for the Identification of Specific Genes in Autism Spectrum Disorders and Intellectual Disability Type de document : Texte imprimé et/ou numérique Auteurs : Yiping SHEN, Auteur ; Xiaohong GONG, Auteur Année de publication : 2016 Importance : p.3-12 Langues : Anglais (eng) Mots-clés : Autozygosity mapping  Balanced translocation breakpoint mapping  Candidate gene approach  Copy number variations  Exome sequencing  Linkage analysis  Next-generation sequencing  Positional mapping  Whole-genome sequencing Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Technological advancements for interrogating genomic variants continue to facilitate discoveries of the genetic causes of intellectual disability (ID) and autism spectrum disorders (ASD), both of which are neurodevelopmental disorders known to have a strong genetic basis. In this chapter we discuss the major methods and approaches that have had significant roles in revealing genes and genomic regions associated with ID and ASD. Linkage analysis followed by candidate gene sequencing and positional cloning in patients with genomic rearrangements have been largely responsible for the success of identifying X-linked and autosomal dominant ID/ASD genes. Autozygosity mapping has a unique role in identifying recessive ID/ASD genes. Exome and whole-genome sequencing has provided unprecedented power for genotyping, and the data have provided us with a broader understanding of the association of de novo variants with ID and ASD. We believe that a better understanding of the genetic underpinnings will lead to better diagnosis, management, and treatment for patients with ID and ASD. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00001-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Experimental Tools for the Identification of Specific Genes in Autism Spectrum Disorders and Intellectual Disability [Texte imprimé et/ou numérique] / Yiping SHEN, Auteur ; Xiaohong GONG, Auteur . - 2016 . - p.3-12. Langues : Anglais (eng) Mots-clés : Autozygosity mapping  Balanced translocation breakpoint mapping  Candidate gene approach  Copy number variations  Exome sequencing  Linkage analysis  Next-generation sequencing  Positional mapping  Whole-genome sequencing Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Technological advancements for interrogating genomic variants continue to facilitate discoveries of the genetic causes of intellectual disability (ID) and autism spectrum disorders (ASD), both of which are neurodevelopmental disorders known to have a strong genetic basis. In this chapter we discuss the major methods and approaches that have had significant roles in revealing genes and genomic regions associated with ID and ASD. Linkage analysis followed by candidate gene sequencing and positional cloning in patients with genomic rearrangements have been largely responsible for the success of identifying X-linked and autosomal dominant ID/ASD genes. Autozygosity mapping has a unique role in identifying recessive ID/ASD genes. Exome and whole-genome sequencing has provided unprecedented power for genotyping, and the data have provided us with a broader understanding of the association of de novo variants with ID and ASD. We believe that a better understanding of the genetic underpinnings will lead to better diagnosis, management, and treatment for patients with ID and ASD. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00001-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301

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