Featured Research

from universities, journals, and other organizations

Researchers reveal 18 novel subtype-dependent genetic variants for autism spectrum disorders and identify potential genetic markers for diagnostic screening

Date:
April 28, 2011
Source:
George Washington University Medical Center
Summary:
By dividing individuals with autism spectrum disorders (ASD) into four subtypes according to similarity of symptoms and reanalyzing existing genome-wide genetic data on these individuals vs. controls, researchers have identified 18 novel and highly significant genetic markers for ASD.

By dividing individuals with autism spectrum disorders (ASD) into four subtypes according to similarity of symptoms and reanalyzing existing genome-wide genetic data on these individuals vs. controls, researchers at the George Washington University School of Medicine and Health Sciences have identified 18 novel and highly significant genetic markers for ASD. In addition, ten of the variants were associated with more than one ASD subtype, providing partial replication of these genetic markers. This study thus identifies candidate genes for ASD and potential subtype-dependent genetic markers for diagnostic screening.

These findings, published in the April 27 edition of the journal PLoS ONE, demonstrate the increased statistical power to identify significant genetic variants when the heterogeneity of the samples tested is reduced by subtyping and further begin to associate genotype with phenotype.

"By working to tease apart the heterogeneity associated with varying severity of autistic symptoms exhibited by individuals with ASD and examining the resulting subtypes of ASD, we believe that we will continue to make strides in figuring out the genetic contributions to autism," said Valerie Hu, Ph.D., professor of Biochemistry and Molecular Biology at GW's School of Medicine and Health Sciences. "The goal of our research is to identify SNPs associated with a subtype of ASD that rise above the 'noise' of the hundreds of thousands of other SNPs when compared against controls, with the hope that we can identify genetic biomarkers for these disorders as well as clues to the biology of autism."

The researchers first identified genetic variants or single nucleotide polymorphisms (SNPs) that are associated with the degree of severity of various different autistic traits, and then they performed case-control genetic association analyses using these variants and subgroups of autistic individuals 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.


Story Source:

The above story is based on materials provided by George Washington University Medical Center. Note: Materials may be edited for content and length.


Journal Reference:

  1. Valerie W. Hu, Anjene Addington, Alexander Hyman. Novel Autism Subtype-Dependent Genetic Variants Are Revealed by Quantitative Trait and Subphenotype Association Analyses of Published GWAS Data. PLoS ONE, 2011; 6 (4): e19067 DOI: 10.1371/journal.pone.0019067

Cite This Page:

George Washington University Medical Center. "Researchers reveal 18 novel subtype-dependent genetic variants for autism spectrum disorders and identify potential genetic markers for diagnostic screening." ScienceDaily. ScienceDaily, 28 April 2011. <www.sciencedaily.com/releases/2011/04/110427171517.htm>.
George Washington University Medical Center. (2011, April 28). Researchers reveal 18 novel subtype-dependent genetic variants for autism spectrum disorders and identify potential genetic markers for diagnostic screening. ScienceDaily. Retrieved July 25, 2014 from www.sciencedaily.com/releases/2011/04/110427171517.htm
George Washington University Medical Center. "Researchers reveal 18 novel subtype-dependent genetic variants for autism spectrum disorders and identify potential genetic markers for diagnostic screening." ScienceDaily. www.sciencedaily.com/releases/2011/04/110427171517.htm (accessed July 25, 2014).

Share This




More Mind & Brain News

Friday, July 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Beatings and Addiction: Pakistan Drug 'clinic' Tortures Patients

Beatings and Addiction: Pakistan Drug 'clinic' Tortures Patients

AFP (July 24, 2014) A so-called drugs rehab 'clinic' is closed down in Pakistan after police find scores of ‘patients’ chained up alleging serial abuse. Duration 03:05 Video provided by AFP
Powered by NewsLook.com
New Painkiller Designed To Discourage Abuse: Will It Work?

New Painkiller Designed To Discourage Abuse: Will It Work?

Newsy (July 24, 2014) The FDA approved Targiniq ER on Wednesday, a painkiller designed to keep users from abusing it. Like any new medication, however, it has doubters. Video provided by Newsy
Powered by NewsLook.com
Can Watching TV Make You Feel Like A Failure?

Can Watching TV Make You Feel Like A Failure?

Newsy (July 24, 2014) A study by German researchers claims watching TV while you're stressed out can make you feel guilty and like a failure. Video provided by Newsy
Powered by NewsLook.com
China's Ageing Millions Look Forward to Bleak Future

China's Ageing Millions Look Forward to Bleak Future

AFP (July 24, 2014) China's elderly population is expanding so quickly that children struggle to look after them, pushing them to do something unexpected in Chinese society- move their parents into a nursing home. Duration: 02:07 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

    Health News

      Environment News

        Technology News



          Save/Print:
          Share:

          Free Subscriptions


          Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

          Get Social & Mobile


          Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

          Have Feedback?


          Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
          Mobile: iPhone Android Web
          Follow: Facebook Twitter Google+
          Subscribe: RSS Feeds Email Newsletters
          Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins