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Study of genetic polymorphisms in autism spectrum disorder

PUBLISHED October 31, 2022 (DOI: https://doi.org/10.54985/peeref.2210p6305148)



Iyshwarya Bhaskar Kalarani1 , Ramakrishnan Veerabathiran1
  1. Chettinad Academy of Research and Education

Conference / event

Chettinad Academy of Research and Education, March 2022 (Chennai, India)

Poster summary

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by stereotyped behavior and poor social interaction. There are approximately 52 million people worldwide who suffer from this disease. Candidate genes associated with ASD are CHD8, SHANK3, SLC6A4, RELN, DISC1, and ITGB3. It is known that a number of prenatal risk factors increase the chances of developing autism and other neurodevelopmental disorders in children. Some genetic mutations and modifications may serve as useful biological markers, risk indicators, and therapeutic targets for diseases because of recent technological advances. To understand disease development better, more studies are needed on environmental variables. The clinical evidence supporting ASD's function is limited at present. The prevailing evidence suggests that many new candidate genes for ASD may be associated with its etiology. Therefore, they may be useful in developing an early diagnostic marker.


Autism spectrum disorder, Mechanism, Pathogenesis, Genetic polymorphism

Research areas



  1. Alotaibi, M., & Ramzan, K. (2020). A de novo variant of CHD8 in a patient with autism spectrum disorder. Discoveries, 8(1), e107.
  2. Frye, R. E., Vassall, S., Kaur, G., Lewis, C., Karim, M., & Rossignol, D. (2019). Emerging biomarkers in autism spectrum disorder: a systematic review. Annals of Translational Medicine, 7(23).
  3. Rylaarsdam, L., & Guemez-Gamboa, A. (2019). Genetic causes and modifers of autism spectrum disorder. Frontiers in Cellular Neuroscience, 13, 385.


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Additional information

Competing interests
No competing interests were disclosed.
Data availability statement
Data sharing not applicable to this poster as no datasets were generated or analyzed during the current study.
Creative Commons license
Copyright © 2022 Bhaskar Kalarani et al. This is an open access work distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Bhaskar Kalarani, I., Veerabathiran, R. Study of genetic polymorphisms in autism spectrum disorder [not peer reviewed]. Peeref 2022 (poster).
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