AI Article Synopsis
- - Velocardiofacial syndrome (VCFS) is a genetic disorder linked to a deletion on chromosome 22 that increases the risk for psychiatric conditions like autism spectrum disorder (ASD) and schizophrenia.
- - Researchers investigated the roles of the genes PRODH and COMT in relation to ASD in youth with VCFS, focusing on their genetic variants.
- - The study found that VCFS individuals with low-activity versions of the PRODH and COMT genes were significantly more likely to exhibit ASD characteristics compared to those with high-activity versions, suggesting a potential interaction between these genes in contributing to ASD.
Article Abstract
Velocardiofacial (VCFS; 22q11.2 deletion) syndrome is a genetic disorder that results from a hemizygous deletion of the q11.2 region on chromosome 22, and is associated with greatly increased risk for psychiatric disorders, including autism spectrum disorder (ASD) and schizophrenia. There is emerging evidence for the involvement of catechol-O-methyltransferase (COMT) and proline dehydrogenase (oxidase) 1 (PRODH) in the psychiatric phenotype of individuals with VCFS. Here, we tested the hypothesis that PRODH and COMT are associated with ASD in youths with VCFS. We found that individuals with VCFS and the low-activity alleles of both PRODH and COMT (rs4819756A and rs4680A) were more likely to present with ASD as compared with individuals with VCFS and the high-activity alleles of these genes [P<0.05; odds ratio=6.0 (95% confidence interval=1.27-28.26; N=87)]. Our results suggest that PRODH and COMT may interact to contribute to the ASD phenotype in individuals with VCFS.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4284058 | PMC |
| http://dx.doi.org/10.1097/YPG.0000000000000062 | DOI Listing |
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