Association of COMT and PRODH gene variants with intelligence quotient (IQ) and executive functions in 22q11.2DS subjects

被引：23
作者：
Carmel, Miri [1 ,2 ]
Zarchi, Omer [1 ,3 ,6 ]
Michaelovsky, Elena [1 ,2 ]
Frisch, Amos [1 ,2 ]
Patya, Miriam [1 ,2 ]
Green, Tamar [1 ,3 ,4 ]
Gothelf, Doron [1 ,3 ]
Weizman, Abraham [1 ,2 ,5 ]
机构：
[1] Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel
[2] Felsenstein Med Res Ctr, Petah Tiqwa, Israel
[3] Edmond & Lily Safra Childrens Hosp, Sheba MedicalCtr, Child Psychiat Unit, Ramat Gan, Israel
[4] Nes Ziyyona Beer Yaakov Mental Hlth Ctr, Beer Yaagov, Israel
[5] Geha Mental Hlth Ctr, Petah Tiqwa, Israel
[6] Rabin Med Ctr, IL-49100 Petah Tiqwa, Israel
来源：
JOURNAL OF PSYCHIATRIC RESEARCH | 2014年 / 56卷
关键词：
22q11.2DS; Intelligence quotient (IQ); Executive function (EF); COMT; CATECHOL-O-METHYLTRANSFERASE; COGNITIVE FUNCTION; DELETION SYNDROME; WORKING-MEMORY; NO EVIDENCE; SCHIZOPHRENIA; CHILDREN; POLYMORPHISM; GENOTYPE; PSYCHOPATHOLOGY;
D O I：
10.1016/j.jpsychires.2014.04.019
中图分类号：
R749 [精神病学];
学科分类号：
100205 ;
摘要：
The 22q11.2 deletion syndrome (22q11.2DS) carries the highest genetic risk factor for the development of schizophrenia. We investigated the association of genetic variants in two schizophrenia candidate genes with executive function (EF) and IQ in 22q11.2DS individuals. Ninety two individuals with 22q11.2 deletion were studied for the genetic association between COMT and PRODH variants and EF and IQ. Subjects were divided into children (under 12 years old), adolescents (between 12 and 18 years old) and adults (older than 18 years), and genotyped for the COMT Val158Met (rs4680) and PRODH Arg185Trp (rs4819756) polymorphisms. The participants underwent psychiatric evaluation and EF assessment. Our main finding is a significant influence of the COMT Val158Met polymorphism on both IQ and EF performance. Specifically, 22q11.2DS subjects with Met allele displayed higher IQ scores in all age groups compared to Val carriers, reaching significance in both adolescents and adults. The Met allele carriers performed better than Val carriers in EF tasks, being statistically significant in the adult group. PRODH Arg185Trp variant did not affect IQ or EF in our 22q11.2DS cohort. In conclusion, functional COMT variant, but not PRODH, affects IQ and EF in 22q11.2DS subjects during neurodevelopment with a maximal effect at adulthood. Future studies should monitor the cognitive performance of the same individuals from childhood to old age. (C) 2014 Elsevier Ltd. All rights reserved.
引用
收藏
页码：28 / 35
页数：8
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