Publication date: March 2020
Source: Research in Autism Spectrum Disorders, Volume 71
Author(s): A.E. Shindler, E.L. Hill-Yardin, S. Petrovski, N. Bishop, A.E. Franks
Abstract
Background
Autism Spectrum Disorder (ASD) symptoms are commonly treated with a variety of pharmaceuticals which can have adverse side effects. A study of pharmacogenetic biomarkers for ASD medications and association with gastrointestinal (GI) dysfunction symptoms was conducted in individuals diagnosed with autism and/or GI dysfunction to provide further information on the genetic risk in relation to treatment effectiveness.
Methods
A total of sixty participants were recruited, 10 with autism and GI dysfunction, 21 with GI dysfunction (without autism) and 29 without autism or GI dysfunction (typical controls). Buccal cell samples were collected and sequenced. A GI dysfunction questionnaire which included questions regarding prescription of medications associated with treating ASD symptoms was provided to the participants. To calculate Odds Ratios and compare the average of risk allele expression frequency of the SNPS being investigated, the sequencing and questionnaire data were analyzed using the epiR package and Welch Two Sample T-tests, respectively, using the R statistics program. The Bonferroni correction was utilized to correct for multiple comparisions.
Results
People in the autism group were more likely to express the risk alleles for the Cytochrome P450 family 2 subfamily C member 9 rs1057910 and Solute Carrier family 6, member 2 rs3785143 SNPs; however, after the Bonferroni correction these findings were not statistically significant (CYP2C9 rs1057910, P = 0.074; SLC6A2, rs3785143, P = 0.4218).
Conclusions
Further research is warranted to reveal the potential use of CYP2C9 and SLC6A2 SNP expression as pharmacogenetic biomarkers to determine the most appropriate medication for individuals with autism and/or GI dysfunction.