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Autor/inn/enAdak, Pallabi; Sinha, Swagata; Banerjee, Nilanjana
TitelAn Association Study of Gamma-Aminobutyric Acid Type a Receptor Variants and Susceptibility to Autism Spectrum Disorders
QuelleIn: Journal of Autism and Developmental Disorders, 51 (2021) 11, S.4043-4053 (11 Seiten)
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Spracheenglisch
Dokumenttypgedruckt; online; Zeitschriftenaufsatz
ISSN0162-3257
DOI10.1007/s10803-020-04865-x
SchlagwörterGenetics; Autism; Pervasive Developmental Disorders; Pilot Projects; Etiology; Foreign Countries; Social Attitudes; Imitation; Emotional Response; Human Body; Sensory Experience; Physical Activity Level; India
AbstractIn this pilot study, we aim to identify the role of few genetic variants of GABA-receptor type A subunits "GABRB[subscript 3]" (rs4906902, rs7171660), "GABRG[subscript 3]" (rs208129, rs140679), "GABRA[subscript 5]" (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'. (As Provided).
AnmerkungenSpringer. Available from: Springer Nature. One New York Plaza, Suite 4600, New York, NY 10004. Tel: 800-777-4643; Tel: 212-460-1500; Fax: 212-460-1700; e-mail: customerservice@springernature.com; Web site: https://link.springer.com/
Erfasst vonERIC (Education Resources Information Center), Washington, DC
Update2024/1/01
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