Shashi Vandana, Howard Timothy D, Keshavan Matcheri S, Kaczorowski Jessica, Berry Margaret N, Schoch Kelly, Spence Edward J, Kwapil Thomas R
Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, North Carolina 27710, USA.
Psychiatry Res. 2010 Jul 30;178(2):433-6. doi: 10.1016/j.psychres.2010.04.048. Epub 2010 May 20.
The COMT gene is thought to contribute to the cognitive/psychiatric phenotypes in 22q11.2 deletion syndrome. We measured these manifestations against the Val/Met alleles of the COMT gene, in 40 nonpsychotic 22q11DS children. The Val allele was associated with poor IQ, processing speed, executive function and a higher frequency of anxiety disorders, underscoring the importance of the COMT gene in the childhood psychopathology in 22q11DS.
人们认为,儿茶酚-O-甲基转移酶(COMT)基因与22q11.2缺失综合征的认知/精神表型有关。我们在40名非精神病性22q11DS儿童中,针对COMT基因的缬氨酸(Val)/蛋氨酸(Met)等位基因测量了这些表现。Val等位基因与低智商、处理速度、执行功能以及更高频率的焦虑症相关,这突出了COMT基因在22q11DS儿童期精神病理学中的重要性。