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GW researchers reveal 18 novel subtype-dependent genetic variants for autism spectrum disorders and identify potential genetic markers for diagnostic screening
Date:4/27/2011

ls who share similar symptoms. This helped the researchers to identify the 18 genetic markers that are associated with four subtypes of ASD, ten of which were associated with more than one ASD subtype. They then examined the minor allele frequencies of the shared SNPs in the respective ASD subtypes and found that the odds ratio is different for each shared SNP, further suggesting genetic heterogeneity among the subtypes. The study also found that all of the novel variants were located in nonexonic DNA regions that do not code for protein and further identified two SNPs that are associated with differentially expressed genes from an earlier study by Dr. Hu's laboratory, suggesting a possible functional relationship between the SNPs and gene expression levels. Based on these findings, the researchers hypothesized that perhaps the newly identified genetic variants are affecting gene regulatory processes, rather than causing a change in protein structure.


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Contact: Anne Banner
abanner@gwumc.edu
202-994-2261
George Washington University Medical Center
Source:Eurekalert

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