caa a22 4500 463254678 CHVBK 20180405153351.0 cr unu---uuuuu 170326e20071201xx s 000 0 eng 10.1007/s10571-007-9193-6 doi (NATIONALLICENCE)springer-10.1007/s10571-007-9193-6 Glutamate Receptor 6 Gene ( GluR6 or GRIK2 ) Polymorphisms in the Indian Population: A Genetic Association Study on Autism Spectrum Disorder [Elektronische Daten] [Shruti Dutta, Subha Das, Subhrangshu Guhathakurta, Barsha Sen, Swagata Sinha, Anindita Chatterjee, Sagarmoy Ghosh, Shabina Ahmed, Saurabh Ghosh, Rajamma Usha] Autism is a neurodevelopmental disorder with early manifestation. It is a multifactorial disorder and several susceptible chromosomal regions for autism are identified through genome scan studies. The gene coding for glutamate receptor 6 (GluR6 or GRIK2) has been suggested as a candidate gene for autism based on its localization in the autism specific region on chromosome 6q21 and the involvement of receptor protein in cognitive functions like learning and memory. Despite its importance, so far no studies have been carried out on possible involvement of GluR6 with autism in the Indian population. Therefore in the present study, we have performed genetic analysis of three markers of GluR6 (SNP1: rs2227281, SNP2: rs2227283, SNP3: rs2235076) for possible association with autism through population, and family-based (TDT and HHRR) approaches. DSM-IV criteria and CARS/ADI-R have been utilized for diagnosis. Genotyping analysis for the SNPs has been carried out in 101 probands with autism spectrum disorder, 180 parents and 152 controls from different regions of India. Since the minor allele frequency of SNP3 was too low, the association studies have been carried out only for SNP1 and SNP2. Even though two earlier studies have shown association of these markers with autism, the present case-control and TDT, as well as HHRR analyses have not demonstrated any biased transmission of alleles or haplotypes to the affected offspring. Thus our results suggest that these markers of GluR6 are unlikely to be associated with autism in the Indian population. Springer Science+Business Media, LLC, 2007 Autism nationallicence PDD-NOS nationallicence Glutamate receptor 6 nationallicence Genetic association nationallicence Case-control nationallicence TDT nationallicence HHRR nationallicence Dutta Shruti Manovikas Biomedical Research & Diagnostic Centre, Manovikas Kendra Rehabilitation & Research Institute for the Handicapped, 482 Madudah, Plot I-24, Sector-J, EM Bypass, 700 107, Kolkata, India aut Das Subha Manovikas Biomedical Research & Diagnostic Centre, Manovikas Kendra Rehabilitation & Research Institute for the Handicapped, 482 Madudah, Plot I-24, Sector-J, EM Bypass, 700 107, Kolkata, India aut Guhathakurta Subhrangshu Manovikas Biomedical Research & Diagnostic Centre, Manovikas Kendra Rehabilitation & Research Institute for the Handicapped, 482 Madudah, Plot I-24, Sector-J, EM Bypass, 700 107, Kolkata, India aut Sen Barsha Manovikas Biomedical Research & Diagnostic Centre, Manovikas Kendra Rehabilitation & Research Institute for the Handicapped, 482 Madudah, Plot I-24, Sector-J, EM Bypass, 700 107, Kolkata, India aut Sinha Swagata Out Patients Department, Manovikas Kendra Rehabilitation & Research Institute for the Handicapped, 482 Madudah, Plot I-24, Sector-J, EM Bypass, 700 107, Kolkata, India aut Chatterjee Anindita Out Patients Department, Manovikas Kendra Rehabilitation & Research Institute for the Handicapped, 482 Madudah, Plot I-24, Sector-J, EM Bypass, 700 107, Kolkata, India aut Ghosh Sagarmoy Department of Microbiology, University college of Science & Technology, Calcutta University, 35 Ballygunge Circular Road, 700 019, Kolkata, India aut Ahmed Shabina Assam Autism Foundation, Amarwati Path, Christian Basti, 781 005, Guwahati, India aut Ghosh Saurabh Human Genetics Unit, Indian Statistical Institute, 203 B.T. Road, 700 108, Kolkata, India aut Usha Rajamma Manovikas Biomedical Research & Diagnostic Centre, Manovikas Kendra Rehabilitation & Research Institute for the Handicapped, 482 Madudah, Plot I-24, Sector-J, EM Bypass, 700 107, Kolkata, India aut Cellular and Molecular Neurobiology Springer US; http://www.springer-ny.com 27/8(2007-12-01), 1035-1047 0272-4340 27:8<1035 2007 27 10571 https://doi.org/10.1007/s10571-007-9193-6 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10571-007-9193-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Dutta Shruti Manovikas Biomedical Research & Diagnostic Centre, Manovikas Kendra Rehabilitation & Research Institute for the Handicapped, 482 Madudah, Plot I-24, Sector-J, EM Bypass, 700 107, Kolkata, India aut NATIONALLICENCE 700 1- Das Subha Manovikas Biomedical Research & Diagnostic Centre, Manovikas Kendra Rehabilitation & Research Institute for the Handicapped, 482 Madudah, Plot I-24, Sector-J, EM Bypass, 700 107, Kolkata, India aut NATIONALLICENCE 700 1- Guhathakurta Subhrangshu Manovikas Biomedical Research & Diagnostic Centre, Manovikas Kendra Rehabilitation & Research Institute for the Handicapped, 482 Madudah, Plot I-24, Sector-J, EM Bypass, 700 107, Kolkata, India aut NATIONALLICENCE 700 1- Sen Barsha Manovikas Biomedical Research & Diagnostic Centre, Manovikas Kendra Rehabilitation & Research Institute for the Handicapped, 482 Madudah, Plot I-24, Sector-J, EM Bypass, 700 107, Kolkata, India aut NATIONALLICENCE 700 1- Sinha Swagata Out Patients Department, Manovikas Kendra Rehabilitation & Research Institute for the Handicapped, 482 Madudah, Plot I-24, Sector-J, EM Bypass, 700 107, Kolkata, India aut NATIONALLICENCE 700 1- Chatterjee Anindita Out Patients Department, Manovikas Kendra Rehabilitation & Research Institute for the Handicapped, 482 Madudah, Plot I-24, Sector-J, EM Bypass, 700 107, Kolkata, India aut NATIONALLICENCE 700 1- Ghosh Sagarmoy Department of Microbiology, University college of Science & Technology, Calcutta University, 35 Ballygunge Circular Road, 700 019, Kolkata, India aut NATIONALLICENCE 700 1- Ahmed Shabina Assam Autism Foundation, Amarwati Path, Christian Basti, 781 005, Guwahati, India aut NATIONALLICENCE 700 1- Ghosh Saurabh Human Genetics Unit, Indian Statistical Institute, 203 B.T. Road, 700 108, Kolkata, India aut NATIONALLICENCE 700 1- Usha Rajamma Manovikas Biomedical Research & Diagnostic Centre, Manovikas Kendra Rehabilitation & Research Institute for the Handicapped, 482 Madudah, Plot I-24, Sector-J, EM Bypass, 700 107, Kolkata, India aut NATIONALLICENCE 773 0- Cellular and Molecular Neurobiology Springer US; http://www.springer-ny.com 27/8(2007-12-01), 1035-1047 0272-4340 27:8<1035 2007 27 10571 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer