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Journal of Autism and Developmental Disorders

Gepubliceerd in:

13-01-2021 | Original Paper

An Association Study of Gamma-Aminobutyric Acid Type A Receptor Variants and Susceptibility to Autism Spectrum Disorders

Auteurs: Pallabi Adak, Swagata Sinha, Nilanjana Banerjee

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 11/2021

Abstract

In this pilot study, we aim to identify the role of few genetic variants of GABA-receptor type A subunits GABRB3 (rs4906902, rs7171660), GABRG3 (rs208129, rs140679), GABRA5 (rs 140681) in the aetiology of autism spectrum disorders in a population of West Bengal. 192 ASD probands, their parents and 184 ethnically-matched healthy controls were recruited for the study. The rs4906902G and the rs140679T conferred significant risk towards ASD. rs7171660 and rs140679 had transmission bias in the family. Neither alleles of rs 208129 and rs 140681 showed significant over-representation in either groups. All these variants were associated with at least one deficit in ASD-associated phenotypes like ‘relating to people’, ‘Imitation’, ‘emotional response’, ‘body use’, ‘taste, smell, touch response’ and ‘activity levels’.

vorige artikel Educational and Diagnostic Classification of Autism Spectrum Disorder and Associated Characteristics

volgende artikel Content Validity Evidence for the Verbal Behavior Milestones Assessment and Placement Program

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Titel: An Association Study of Gamma-Aminobutyric Acid Type A Receptor Variants and Susceptibility to Autism Spectrum Disorders
Auteurs: Pallabi Adak
Swagata Sinha
Nilanjana Banerjee
Publicatiedatum: 13-01-2021
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 11/2021
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-020-04865-x

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