MTHFR Functional Polymorphism C677T and Genomic Instability in the Etiology of Idiopathic Autism in Simplex Families. Revision

Abstract

With our previous published study revealed significantly association of C677T polymorphism in MTHFR gene with idiopathic autism in Simplex (SPX) autism families; and the proven facts that de novo CNVs rates are consistently high in SPX ASD (5.8%-10.2%) versus familial ASD (2-3%), we hypothesize that low-activity MTHFR 677T allele leads to increase global DNA hypomethylation and consequently results in increased generation of de novo CNVs bringing about a higher risk for developing sporadic cases of autism. We proposed to test 1) the association of MTHFR 677T allele with rate of ASD related de novo CNVs; 2) the association of of MTHFR 677T allele with increased level of global hypomethylation; and 3) the association of level of global hypomethylation with increased rate of ASD related de novo CNVs.

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Document Details

Document Type
Technical Report
Publication Date
Oct 01, 2013
Accession Number
ADA600503

Entities

People

  • Xudong Liu

Organizations

  • Queen's University

Tags

DTIC Thesaurus Topics

  • Biomedical Research
  • Data Analysis
  • Data Sets
  • Demographic Cohorts
  • Etiology
  • Genes
  • Genetic Structures
  • Genetics
  • Genome
  • Genomic Instability
  • High Resolution
  • Instability
  • Methylation
  • Pipelines
  • Quality Control
  • Saturation
  • Standards

Fields of Study

  • Biology

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