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

[22q11.2 deletion syndrome]

The 22 q 11 .2 deletion syndrome (22 q 11 .2 DS ) 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 22 q 11 .2 DS individuals . Ninety two individuals with 22 q 11 .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 Val 158 Met (rs 4680 ) and PRODH Arg 185 Trp (rs 48 1975 6 ) polymorphisms . The participants underwent psychiatric evaluation and EF assessment . Our main finding is a significant influence of the COMT Val 158 M et polymorphism on both IQ and EF performance . Specifically , 22 q 11 .2 DS subjects with Met Â allele displayed higher IQ scores in all age groups compared to Val carriers , reaching significance in both adolescents and adults . The Met Â allele carriers performed better than Val carriers in EF tasks , being statistically significant in the adult group . PRODH Arg 185 T rp variant did not affect IQ or EF in our 22 q 11 .2 DS cohort . In conclusion , functional COMT variant , but not PRODH , affects IQ and EF in 22 q 11 .2 DS 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 .

Diseases
Validation

Diseases presenting "schizophrenia" symptom

22q11.2 deletion syndrome

achondroplasia

alexander disease

cadasil

child syndrome

congenital toxoplasmosis

kabuki syndrome

kallmann syndrome

krabbe disease

neuralgic amyotrophy

oligodontia

oral submucous fibrosis

zellweger syndrome

This symptom has already been validated