Imagen de Portada
Código QR

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...

Descripción completa

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
Sumario: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.