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Am J Med Genet B Neuropsychiatr Genet. 2008 Mar 5;147B(2):194-200.

The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population.

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Department of Central Laboratory, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.


The region on chromosome 7q stands out as the region of suggestive linkage to aetiology of autism with the greatest concordance in many independent genome-wide scans. RELN and GRM8, the two genes selected in this study, are located within this region. The protein products of both genes are considered to play a pivotal role in the development of the central nervous system. In addition, biochemical and neuroanatomical data indicated that RELN and GRM8 genes are likely involved in the pathogenesis of autistic disorder. Therefore, both RELN and GRM8 genes are considered to be not only the positional but also the functional candidate genes to autism for association research. In this study, we genotyped 12 single nucleotide polymorphisms (SNPs) located within the RELN and GRM8 genes in 213 children with autistic spectrum disorder (ASD) and 160 controls. A significant genetic association between SNP2 (located in intron 59 of RELN) and ASD was observed, and the log-additive model was accepted as the best inheritance model fitting this data (OR: 0.72, 95% CI: 0.54-0.97, P = 0.03). Haplotype-specific association analysis revealed that the result was consistent with the individual SNP study; the combination of SNP1/SNP2/SNP3/SNP4 which are in strong linkage disequilibrium (LD) (D' > 0.75) showed significant association with ASD (P = 0.027). Neither the single SNP nor the haplotype analysis showed significant association between ASD and the markers of GRM8 gene. Hence, our study suggested the possible involvement of RELN gene in the susceptibility to ASD. Future replications are warranted before definitive conclusion can be drawn.

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