Association of Phase II Drug Metabolizing Enzyme and Hormonal Balance Single Nucleotide Polymorphisms (SNPs) with Autism: A Case Control Study

Abstract

Autism is a neurodevelopmental, chronic disease that is classified under Autism Spectrum Disorder (ASD) group. Considering high prevalence of 14.6 per 1000 children, all of these symptoms and conditions place both physical, emotional and economic burden on patients with autism and their relatives. One of the genetic determinants that affects ASD development is increased oxidative stress as a result of improper phase II drug metabolism enzyme function. Additionally, considering the higher prevalence of autism in males than females with a ratio of 3:1, it is important to understand genetic factors and pathways that play role in the sex difference. Therefore, the aim of this study was to analyze the association between phase II drug metabolism-related and hormonal balance related SNPs with autism. Based on the case control data among 1737 participants from Melbourne, Australia, among 6 statistically significant SNPs based on simple logistic regression, only 3 phase II metabolism related SNPs were statistically significant in final, age and gender adjusted model – GSTP1, QR1 and HO-1. None of the hormonal balance related SNPs were statistically significant at the final model. Considering high power of this study, based on the finding several possible implications can be applied in the future, including early diagnosis and the diet based on genetic profiling.