Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families / Xudong LIU in Journal of Autism and Developmental Disorders, 41-7 (July 2011)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 41-7 (July 2011) . - p.938-944 Titre : Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families Type de document : Texte imprimé et/ou numérique Auteurs : Xudong LIU, Auteur ; Fatima SOLEHDIN, Auteur ; Ira L. COHEN, Auteur ; Maripaz G. GONZALEZ, Auteur ; Edmund C. JENKINS, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur Année de publication : 2011 Article en page(s) : p.938-944 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders (ASDs)  Gene association  Methylenetetrahydrofolate reductase (MTHFR)  Functional polymorphism  Epigenetics  Methylation Index. décimale : PER Périodiques Résumé : Two methylenetetrahydrofolate reductase gene (MTHFR) functional polymorphisms were studied in 205 North American simplex (SPX) and 307 multiplex (MPX) families having one or more children with an autism spectrum disorder. Case–control comparisons revealed a significantly higher frequency of the low-activity 677T allele, higher prevalence of the 677TT genotype and higher frequencies of the 677T-1298A haplotype and double homozygous 677TT/1298AA genotype in affected individuals relative to controls. Family-based association testing demonstrated significant preferential transmission of the 677T and 1298A alleles and the 677T-1298A haplotype to affected offspring. The results were not replicated in MPX families. The results associate the MTHFR gene with autism in SPX families only, suggesting that reduced MTHFR activity is a risk factor for autism in these families. En ligne : http://dx.doi.org/10.1007/s10803-010-1120-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=130 [article] Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families [Texte imprimé et/ou numérique] / Xudong LIU, Auteur ; Fatima SOLEHDIN, Auteur ; Ira L. COHEN, Auteur ; Maripaz G. GONZALEZ, Auteur ; Edmund C. JENKINS, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur . - 2011 . - p.938-944. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 41-7 (July 2011) . - p.938-944 Mots-clés : Autism spectrum disorders (ASDs)  Gene association  Methylenetetrahydrofolate reductase (MTHFR)  Functional polymorphism  Epigenetics  Methylation Index. décimale : PER Périodiques Résumé : Two methylenetetrahydrofolate reductase gene (MTHFR) functional polymorphisms were studied in 205 North American simplex (SPX) and 307 multiplex (MPX) families having one or more children with an autism spectrum disorder. Case–control comparisons revealed a significantly higher frequency of the low-activity 677T allele, higher prevalence of the 677TT genotype and higher frequencies of the 677T-1298A haplotype and double homozygous 677TT/1298AA genotype in affected individuals relative to controls. Family-based association testing demonstrated significant preferential transmission of the 677T and 1298A alleles and the 677T-1298A haplotype to affected offspring. The results were not replicated in MPX families. The results associate the MTHFR gene with autism in SPX families only, suggesting that reduced MTHFR activity is a risk factor for autism in these families. En ligne : http://dx.doi.org/10.1007/s10803-010-1120-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=130

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