Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families.

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...

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Publicado en:Journal of Autism & Developmental Disorders Vol. 41; no. 7; pp. 938 - 945
Autores principales: Liu, Xudong, Solehdin, Fatima, Cohen, Ira, Gonzalez, Maripaz, Jenkins, Edmund, Lewis, M., Holden, Jeanette
Formato: research tables/charts Journal Article
Publicado: Springer Nature Jul2011
Acceso en línea:Ver este registro en EBSCOhost
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      dt: Jul2011
      vid: 41
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      pub: Springer Nature
      place: New York, New York
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        atl: Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families.
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        au:
          Liu, Xudong
          Solehdin, Fatima
          Cohen, Ira
          Gonzalez, Maripaz
          Jenkins, Edmund
          Lewis, M.
          Holden, Jeanette
      sug:
        subj:
          Oxidoreductases
          Polymorphism, Genetic
          Autism Spectrum Disorder
          Family
          Human
          Methylation
          Risk Factors
          Intelligence Tests
          Case Control Studies
          Male
          Female
          DNA Analysis
          Genotype
          Chi Square Test
          Data Analysis Software
          Funding Source
          Random Sample
          Alleles
          Male
          Female
      ab: 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.
      pubtype: Academic Journal
      doctype:
        research
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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