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13-01-2021 | Original Paper

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

Tijdschrift:: Journal of Autism and Developmental Disorders

Auteurs:: Pallabi Adak, Swagata Sinha, Nilanjana Banerjee

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Supplementary Information

The online version of this article (https://doi.org/10.1007/s10803-020-04865-x) contains supplementary material, which is available to authorized users.

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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’.

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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
DOI: https://doi.org/10.1007/s10803-020-04865-x
Uitgeverij: Springer US
Tijdschrift: Journal of Autism and Developmental Disorders
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432

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