A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands

Abstract Alteration in gamma aminobutyric acid (GABA), the principal inhibitory neurotransmitter, is speculated to be a potential risk factor for Autism Spectrum Disorder (ASD) due to an altered expression in the brain. Sensory, social, and emotional deficits of subjects with ASD were reported to be...

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Autores principales:	Sharmistha Saha, Mahasweta Chatterjee, Swagata Sinha, Kanchan Mukhopadhyay
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/a01bb7cc786244dca905ef02e9dc497a
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spelling	oai:doaj.org-article:a01bb7cc786244dca905ef02e9dc497a2021-12-02T17:04:07ZA pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands10.1038/s41598-021-86496-52045-2322https://doaj.org/article/a01bb7cc786244dca905ef02e9dc497a2021-03-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-86496-5https://doaj.org/toc/2045-2322Abstract Alteration in gamma aminobutyric acid (GABA), the principal inhibitory neurotransmitter, is speculated to be a potential risk factor for Autism Spectrum Disorder (ASD) due to an altered expression in the brain. Sensory, social, and emotional deficits of subjects with ASD were reported to be caused by an imbalance between excitatory and inhibitory neurotransmission as well as GABAergic dysfunction caused by inadequate receptor function. We for the first time studied association between ASD and a missense coding variant rs3810651 (I478F) in the GABRQ gene, encoding for one of the subunits of GABAA receptors. Stratified analysis on families with ASD probands (N = 251) and ethnically matched control subjects (N = 250) revealed marginally higher frequency of “A” allele and “AA” genotype in female ASD probands as compared to gender matched controls. Female probands demonstrated higher severity for Verbal communication (χ2 = 5.75, P = 0.01), Activity level (χ2 = 7.26, P = 0.007), as well as Level and consistency of intellectual response (χ2 = 7.83 P = 0.005) in presence of “A/AA” warranting further in-depth investigation on the role of rs3810651 in ASD.Sharmistha SahaMahasweta ChatterjeeSwagata SinhaKanchan MukhopadhyayNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-5 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Sharmistha Saha Mahasweta Chatterjee Swagata Sinha Kanchan Mukhopadhyay A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands
description	Abstract Alteration in gamma aminobutyric acid (GABA), the principal inhibitory neurotransmitter, is speculated to be a potential risk factor for Autism Spectrum Disorder (ASD) due to an altered expression in the brain. Sensory, social, and emotional deficits of subjects with ASD were reported to be caused by an imbalance between excitatory and inhibitory neurotransmission as well as GABAergic dysfunction caused by inadequate receptor function. We for the first time studied association between ASD and a missense coding variant rs3810651 (I478F) in the GABRQ gene, encoding for one of the subunits of GABAA receptors. Stratified analysis on families with ASD probands (N = 251) and ethnically matched control subjects (N = 250) revealed marginally higher frequency of “A” allele and “AA” genotype in female ASD probands as compared to gender matched controls. Female probands demonstrated higher severity for Verbal communication (χ2 = 5.75, P = 0.01), Activity level (χ2 = 7.26, P = 0.007), as well as Level and consistency of intellectual response (χ2 = 7.83 P = 0.005) in presence of “A/AA” warranting further in-depth investigation on the role of rs3810651 in ASD.
format	article
author	Sharmistha Saha Mahasweta Chatterjee Swagata Sinha Kanchan Mukhopadhyay
author_facet	Sharmistha Saha Mahasweta Chatterjee Swagata Sinha Kanchan Mukhopadhyay
author_sort	Sharmistha Saha
title	A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands
title_short	A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands
title_full	A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands
title_fullStr	A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands
title_full_unstemmed	A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands
title_sort	pioneering study indicate role of gabrq rs3810651 in asd severity of indo-caucasoid female probands
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/a01bb7cc786244dca905ef02e9dc497a
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A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands

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