Cellular and Molecular Neurobiology

, Volume 27, Issue 8, pp 1035–1047 | Cite as

Glutamate Receptor 6 Gene (GluR6 or GRIK2) Polymorphisms in the Indian Population: A Genetic Association Study on Autism Spectrum Disorder

  • Shruti Dutta
  • Subha Das
  • Subhrangshu Guhathakurta
  • Barsha Sen
  • Swagata Sinha
  • Anindita Chatterjee
  • Sagarmoy Ghosh
  • Shabina Ahmed
  • Saurabh Ghosh
  • Rajamma UshaEmail author
Original Paper


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.


Autism PDD-NOS Glutamate receptor 6 Genetic association Case–control TDT HHRR 



The study was partially supported by a research grant from Council of Scientific and Industrial Research (CSIR), Govt. of India. S. Dutta is a senior research fellow of Indian Council of Medical Research, Govt. of India. The financial assistance as research fellowship to SG and BS from CSIR and Lady Tata Memorial Trust are gratefully acknowledged. We thank Dr. Manoranjan Singh, Research Director of Manovikas Biomedical Research and Diagnostic Centre, for the helpful scientific discussions and support throughout the study. We also thank all the volunteers who have participated in this study.


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Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Shruti Dutta
    • 1
  • Subha Das
    • 1
  • Subhrangshu Guhathakurta
    • 1
  • Barsha Sen
    • 1
  • Swagata Sinha
    • 2
  • Anindita Chatterjee
    • 2
  • Sagarmoy Ghosh
    • 3
  • Shabina Ahmed
    • 4
  • Saurabh Ghosh
    • 5
  • Rajamma Usha
    • 1
    Email author
  1. 1.Manovikas Biomedical Research & Diagnostic Centre, Manovikas Kendra Rehabilitation & Research Institute for the HandicappedKolkata India
  2. 2.Out Patients DepartmentManovikas Kendra Rehabilitation & Research Institute for the HandicappedKolkataIndia
  3. 3.Department of MicrobiologyUniversity college of Science & Technology, Calcutta UniversityKolkataIndia
  4. 4.Assam Autism FoundationGuwahatiIndia
  5. 5.Human Genetics UnitIndian Statistical InstituteKolkataIndia

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