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4th International Conference on Pediatrics and Pediatric Emergency Medicine

Atlanta, USA

Ping-I (Daniel) Lin

Ping-I (Daniel) Lin

Cincinnati Children’s Hospital Medical Center, USA

Title: Unraveling novel genetic pathways in autism through gene-environment interactions
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Biography

Biography: Ping-I (Daniel) Lin

Abstract

Gene-environment interactions may contribute to the risk of autism spectrum disorder (ASD). Previous evidence has inconclusively suggested that prenatal exposure to some medications may be associated with the risk of ASD. Little is know whether these medications may interact with some ASD-related genes to influence the risk of ASD. I have proposed a novel multi-step approach that combines bioinformatics screening and statistical interaction scans, to identify interactions efficiently supported by convergent lines of evidence. First, we have identified overlapped genes shared by ASD and several class A-C drugs, and quantified the level of attributable risk of each drug in the context of susceptibility to ASD. We found that that ASD-related genes, such as INPP1, KIF5C, and ST7 genes, of which expressions might be perturbed by a terbutaline – a beta 2 adrenergic receptor agonist. Our genome-wide interaction scan on 3,700 cases of ASD provides further discovered several variants in the ST7 (Suppression of Tumorigenicity 7) gene were significantly over-represented in cases with prenatal terbutaline exposure compared to cases without prenatal terbutaline exposure (p < 0.0001). The convergent approach has confirmed that terbutaline may modify the effect of ST7 on the risk of ASD. These findings have also lent some support to the prior findings on the comorbidity link between ASD and cancers. Further research on the impact of terbutaline-induced in-vivo functional changes of the ST7 gene on ASD-like phenotypes is warranted to validate our screening results.


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