Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome
Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome
复制标题
DOI：
10.1176/appi.ajp.161.9.1700
复制
发表时间：
2004-09-01
影响因子：
17.7
通讯作者：
Simon, TJ
中科院分区：
文献类型：
--
作者：
Bearden, CE;Jawad, AF;Simon, TJ
目的：22q11.2缺失综合征（DiGeorge/velocardiofacial综合征）与注意力问题和执行功能障碍有关，是精神分裂症已知的最高风险因素之一。这些行为表现的22q11.2缺失综合征可能是由于单倍不足的儿茶酚O-甲基转移酶（COMT）基因，位于22 q11区域。本研究旨在探讨COMT基因型对22 q11.2缺失综合征患者前额叶认知功能的预测作用（Met半合子：N=16;瓦尔半合子：N=28）。协方差分析显示，Met-hemizygous患者在执行功能的复合指标上表现明显更好结论：这些数据与以前在正常个体中的研究结果一致，表明22 q11区域的功能遗传多态性可能会影响COMT单倍型不足个体的前额认知。
Objective: The 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) is associated with attentional problems and executive dysfunction, and is one of the highest known risk factors for schizophrenia. These behavioral manifestations of 22q11.2 deletion syndrome could result from haploinsufficiency of the catechol O-methyltransferase (COMT) gene, located within the 22q11 region. The goal of the present study was to examine COMT genotype as a predictor of prefrontal cognitive function in patients with 22q11.2 deletion syndrome.Method: Patients with confirmed 22q11.2 deletions (N=44) underwent neurocognitive testing following Val(158)Met genotyping (Met hemizygous: N=16; Val hemizygous: N=28).Results: Analyses of covariance revealed that Met-hemizygous patients performed significantly better on a composite measure of executive function (comprising set-shifting, verbal fluency, attention, and working memory) than did Val-hemizygous patients.Conclusions: These data are consistent with those of previous studies in normal individuals, suggesting that a functional genetic polymorphism in the 22q11 region may influence prefrontal cognition in individuals with COMT haploinsufficiency.