Having a high-activity catechol-O-methyltransferase allele is associated with elevated anxiety and lower salivary dehydroepiandrosterone but also lower alpha amylase in children with chromosome 22q11.2 deletion syndrome.
Date of Award
Chromosome 22q11.2 deletion syndrome (22q11.2DS) results from a hemizygous deletion located on the long arm of chromosome 22. The most common deletion sizes affect between 30 and 90 genes. Individuals with 22q11.2DS may develop serious developmental and psychiatric disorders. The phenotype is highly variable, however, and may be influenced by allelic variation of the retained copies of genes covered by the deletion. I set out to examine the effects of two genes, catechol-O-methyltransferase (COMT) and proline dehydrogenase (PRODH), in relation to anxiety in children and adolescents with 22q11.2DS. Individuals with the major COMT allele (higher activity) have significantly higher anxiety than those with the minor allele (p=0.021). Analyses of endocrine indicators of stress suggested that individuals with the minor COMT allele may have higher levels of salivary DHEA and alpha amylase associated with dysregulation of the hormonal stress-response system, though these results were not significant after a Bonferroni correction.
Beebe, Jessie, "Having a high-activity catechol-O-methyltransferase allele is associated with elevated anxiety and lower salivary dehydroepiandrosterone but also lower alpha amylase in children with chromosome 22q11.2 deletion syndrome." (2021). University of New Orleans Theses and Dissertations. 2914.
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