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MET Gene Variant Linked to Autism GI Disorders

Alterations in the MET gene promoter associated with co-occurring conditions

TUESDAY, Mar. 3 (HealthDay News) -- Alterations of the MET gene, encoding an enzyme involved in brain development and gastrointestinal repair, may be associated with an increased risk of autism spectrum disorder with associated gastrointestinal dysfunction, according to research published in the March issue of Pediatrics.

Daniel B. Campbell, Ph.D., of Vanderbilt University in Nashville, and colleagues performed a retrospective analysis of 992 individuals identified from 214 families registered with the Autism Genetics Resource Exchange. A functional variation in the promoter region of the gene, MET C, is associated with autism spectrum disorder; the investigators therefore genotyped this region in each of the study participants.

The MET C variant was significantly associated with a diagnosis of autism spectrum disorder, as well as the presence of gastrointestinal conditions, the researchers report. In the 118 families identified with a child having both autism spectrum disorder and gastrointestinal conditions, the MET C promoter variant was significantly associated with both disorders. Conversely, among the 96 families who did not have a child with the co-occurring disorders, no association was apparent, the authors note. The MET C allele was significantly more frequent among children with co-occurring autism spectrum disorder and gastrointestinal conditions, compared with their siblings, parents or unrelated control individuals, the investigators found.

"Future prospective studies should replicate this genetic association, and further determine if there are correlations among MET promoter variant genotype, MET protein expression in the gastrointestinal system, and specific gastrointestinal conditions in individuals with autism spectrum disorder," the authors conclude.

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