Psychiatric Genetics

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Psychiatric Genetics:
doi: 10.1097/YPG.0b013e32833a2220
Brief Reports

MTHFR C677T is not a risk factor for autism spectrum disorders in South Brazil

Santos, Pollyanna Almeida Costa dosa; Longo, Dânaea; Brandalize, Ana Paula Carneiroa; Schüler-Faccini, Lavíniaa b

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Many studies have suggested that autism may be associated with metabolic abnormalities in the folate/homocysteine pathway, which is involved in DNA methylation, thus altering gene expression. One of the most important polymorphisms in this pathway is C677T of the methylenetetrahydrofolate reductase gene, because the T allele is associated with a decrease in enzymatic activity. We evaluated the association between C677T polymorphism and autism spectrum disorders through a case--control study. In addition, we analyzed the influence of this polymorphism on certain autistic behaviors like complex body movements, self-injury and averted gaze according to the Autism Diagnostic Interview-Revised. The analyses involved 151 children with idiopathic autism spectrum disorder and 100 healthy control children. The frequency of the T allele was 0.38 for the case group and 0.35 for the control group (P=0.77). The genotypic distribution did not show significant differences between cases and controls (P=0.72), nor association between the T allele and selected behaviors.

© 2010 Lippincott Williams & Wilkins, Inc.


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