25033
Genetic Influence on Treatment Response in Children with ASD
Objectives: We hypothesised that genetic factors in genes coding for metabolic enzymes and in genes coding for drug targets may contribute to treatment failure. The identification of the genetic factors that influence response and side effects may help to improve treatment in ASD children
Methods: To test this hypothesis we investigated 32 single nucleotide polymorphisms (SNPs) in 16 genes relevant to pharmacological treatment (CYP1A2, CYP2C9, CYP2C19, CYP2D6, CYP3A5, MDR1, D2, D3, 5-HT1A, 5-HT2A, 5-HT2C, BDNF, COMT, MC4R, LEP and CNR1) in 72 ASD children (88% males, mean age: 8 ± 2.6) treated with a antipsychotics and stimulant medications (risperidone, aripripazole and methylphenidate).
Results: a genetic variant (rs4244285) in the enzyme CYP2C19, was found associated with treatment-induced weight gain (p<0.04). A trend towards association between a polymorphism in the CNR1 gene (rs489693) and weight gain was also observed (p=0.06). No significant associations were detected with level of treatment efficacy.
Conclusions: if confirmed, this pharmacogenetic information may help to identify children susceptible of gaining weight during pharmacological treatment, who may benefit from alternative medications and/or palliative interventions.