Literature DB >> 33442857

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

Pallabi Adak1, Swagata Sinha2, Nilanjana Banerjee3.   

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'.

Entities:  

Keywords:  Autism spectrum disorders; CARS; Children; GABRA5; GABRB3; GABRG3; MDR

Year:  2021        PMID： 33442857     DOI： 10.1007/s10803-020-04865-x

Source DB:  PubMed          Journal:  J Autism Dev Disord        ISSN： 0162-3257


  25 in total

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Authors:  Lance W Hahn; Marylyn D Ritchie; Jason H Moore
Journal:  Bioinformatics       Date:  2003-02-12       Impact factor: 6.937

2.  Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers.

Authors:  E H Cook; R Y Courchesne; N J Cox; C Lord; D Gonen; S J Guter; A Lincoln; K Nix; R Haas; B L Leventhal; E Courchesne
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

3.  Association between a GABRB3 polymorphism and autism.

Authors:  J D Buxbaum; J M Silverman; C J Smith; D A Greenberg; M Kilifarski; J Reichert; E H Cook; Y Fang; C-Y Song; R Vitale
Journal:  Mol Psychiatry       Date:  2002       Impact factor: 15.992

4.  15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.

Authors:  Amber Hogart; Raman P Nagarajan; Katherine A Patzel; Dag H Yasui; Janine M Lasalle
Journal:  Hum Mol Genet       Date:  2007-03-05       Impact factor: 6.150

5.  Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data.

Authors:  Frank Dudbridge
Journal:  Hum Hered       Date:  2008-03-31       Impact factor: 0.444

6.  Using the childhood autism rating scale to diagnose autism spectrum disorders.

Authors:  Colby Chlebowski; James A Green; Marianne L Barton; Deborah Fein
Journal:  J Autism Dev Disord       Date:  2010-07

7.  Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1.

Authors:  Noelle D Germain; Pin-Fang Chen; Alex M Plocik; Heather Glatt-Deeley; Judith Brown; James J Fink; Kaitlyn A Bolduc; Tiwanna M Robinson; Eric S Levine; Lawrence T Reiter; Brenton R Graveley; Marc Lalande; Stormy J Chamberlain
Journal:  Mol Autism       Date:  2014-08-20       Impact factor: 7.509

8.  A Comparative Review of microRNA Expression Patterns in Autism Spectrum Disorder.

Authors:  Steven D Hicks; Frank A Middleton
Journal:  Front Psychiatry       Date:  2016-11-04       Impact factor: 4.157

Review 9.  Early Disruption of the Microbiome Leading to Decreased Antioxidant Capacity and Epigenetic Changes: Implications for the Rise in Autism.

Authors:  Rebecca S Eshraghi; Richard C Deth; Rahul Mittal; Mayank Aranke; Sae-In S Kay; Baharak Moshiree; Adrien A Eshraghi
Journal:  Front Cell Neurosci       Date:  2018-08-15       Impact factor: 5.505

Review 10.  Autism risk factors: genes, environment, and gene-environment interactions.

Authors:  Pauline Chaste; Marion Leboyer
Journal:  Dialogues Clin Neurosci       Date:  2012-09       Impact factor: 5.986
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  2 in total

1.  SNP-PCR genotyping links alterations in the GABAA receptor (GABRG3: rs208129) and RELN (rs73670) genes to autism spectrum disorder among peadiatric Iraqi Arabs.

Authors:  Zainab A Ali; Akeel A Yasseen; Katherine A McAllister; Arafat Al-Dujailli; Ahmed J Al-Karaqully; Alaa S Jumaah
Journal:  Mol Biol Rep       Date:  2022-04-11       Impact factor: 2.742

Review 2.  Variable Expression of GABAA Receptor Subunit Gamma 2 Mutation in a Nuclear Family Displaying Developmental and Encephalopathic Phenotype.

Authors:  Gerald Nwosu; Shilpa B Reddy; Heather Rose Mead Riordan; Jing-Qiong Kang
Journal:  Int J Mol Sci       Date:  2022-08-26       Impact factor: 6.208
  2 in total

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