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 "factor for the development of schizophrenia" symptom

22q11.2 deletion syndrome

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