ERIC Number: EJ928797
Record Type: Journal
Publication Date: 2011-Jul
Abstractor: As Provided
Reference Count: 44
Population- and Family-Based Studies Associate the "MTHFR" Gene with Idiopathic Autism in Simplex Families
Liu, Xudong; Solehdin, Fatima; Cohen, Ira L.; Gonzalez, Maripaz G.; Jenkins, Edmund C.; Lewis, M. E. Suzanne; Holden, Jeanette J. A.
Journal of Autism and Developmental Disorders, v41 n7 p938-944 Jul 2011
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.
Descriptors: Autism, Genetics, North Americans, Family (Sociological Unit), Children, Risk, Comparative Analysis
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Authoring Institution: N/A