Manovikas Biomedical Research and Diagnostic Centre, Manovikas Kendra, 482 Madudah, Plot I-24, Sector J, E.M. Bypass, Kolkata, West Bengal, 700107, India.
Out Patient Department, Manovikas Kendra, Kolkata, West Bengal, 700107, India.
J Autism Dev Disord. 2021 Nov;51(11):4043-4053. doi: 10.1007/s10803-020-04865-x. Epub 2021 Jan 13.
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'.
在这项初步研究中，我们旨在确定 GABA 受体 A 亚基 GABRB3（rs4906902、rs7171660）、GABRG3（rs208129、rs140679）、GABRA5（rs140681）的少数遗传变异在孟加拉邦人群中自闭症谱系障碍发病机制中的作用。192 名 ASD 先证者、他们的父母和 184 名具有种族匹配的健康对照者被招募参加这项研究。rs4906902G 和 rs140679T 赋予了 ASD 的显著风险。rs7171660 和 rs140679 在家庭中存在传递偏倚。rs208129 和 rs140681 的等位基因在任何一组中都没有明显的过度表达。所有这些变异都与 ASD 相关表型的至少一个缺陷有关，如“与人交往”、“模仿”、“情绪反应”、“身体使用”、“味觉、嗅觉、触觉反应”和“活动水平”。
