The determination of the accurate CYP2D6 genotyping is essential in the clinical setting and individualization of drug therapy.

In this study, was to apply the Luminex xTAG technology to detect significant CYP2D6 polymorphisms and copy number variation, including assessment the relationship of CYP2D6 polymorphisms and risperidone plasma concentration in autism spectrum disorder children (ASD) treated with risperidone.

All 84 ASD patients included in this study had been receiving risperidone at least for 1 month. The CYP2D6 genotypes were determined by luminex assay. Plasma concentrations of risperidone and 9-hydroxyrisperidone were measured using LC/MS/MS.

Among the 84 patients, the most common genotype was CYP2D6*1/*10 (26.19%). The most common allele was CYP2D6*10 (51.79%) and the second most allele was CYP2D6*1 (27.98%). There were 46 (55.42%) classified as EM, 33 (39.76%) as IM, and 4 (4.82%) as UM. The plasma concentration of risperidone and risperidone/9-hydroxyrisperidone ratio in the patients were significant differences among the CYP2D6 predicted phenotype group (P = 0.001 and P < 0.0001, respectively). Moreover, the plasma concentration of risperidone and risperidone/9-hydroxyrisperidone ratio in the patients with CYP2D6 activity score 0.5 were significantly higher than those with the CYP2D6 activity score 2.0 (P = 0.004 and P = 0.002, respectively).

The present study suggests that it would be ideal to identify the CYP2D6 genotype of patients before prescribing and administering risperidone. Furthermore, the use of CYP2D6 gene scoring system to determine an individual's metabolic capacity may become an essential tool for a more rational and safer drug administration.

The authors have not supplied their declaration of competing interest.