TY - JOUR
T1 - Glutamate receptor 6 gene (GluR6 or GRIK2) polymorphisms in the Indian population
T2 - A genetic association study on autism spectrum disorder
AU - Dutta, Shruti
AU - Das, Subha
AU - Guhathakurta, Subhrangshu
AU - Sen, Barsha
AU - Sinha, Swagata
AU - Chatterjee, Anindita
AU - Ghosh, Sagarmoy
AU - Ahmed, Shabina
AU - Ghosh, Saurabh
AU - Usha, Rajamma
N1 - Funding Information:
Acknowledgments 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.
PY - 2007/12
Y1 - 2007/12
N2 - 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.
AB - 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.
KW - Autism
KW - Case-control
KW - Genetic association
KW - Glutamate receptor 6
KW - HHRR
KW - PDD-NOS
KW - TDT
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U2 - 10.1007/s10571-007-9193-6
DO - 10.1007/s10571-007-9193-6
M3 - Article
C2 - 17712621
AN - SCOPUS:38649088607
SN - 0272-4340
VL - 27
SP - 1035
EP - 1047
JO - Cellular and molecular neurobiology
JF - Cellular and molecular neurobiology
IS - 8
ER -