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Journal article
Glutathione pathway gene variation and risk of autism spectrum disorders
Journal of neurodevelopmental disorders, v 3(2), pp 132-143
Jun 2011
PMID: 21484198
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Abstract
Despite evidence that autism is highly heritable with estimates of 15 or more genes involved, few studies have directly examined associations of multiple gene interactions. Since inability to effectively combat oxidative stress has been suggested as a mechanism of autism, we examined genetic variation 42 genes (308 single-nucleotide polymorphisms (SNPs)) related to glutathione, the most important antioxidant in the brain, for both marginal association and multi-gene interaction among 318 case–parent trios from The Autism Genetic Resource Exchange. Models of multi-SNP interactions were estimated using the trio Logic Regression method. A three-SNP joint effect was observed for genotype combinations of SNPs in glutaredoxin, glutaredoxin 3 (
GLRX3
), and cystathione gamma lyase (
CTH
); OR = 3.78, 95% CI: 2.36, 6.04. Marginal associations were observed for four genes including two involved in the three-way interaction:
CTH
, alcohol dehydrogenase 5, gamma-glutamylcysteine synthetase, catalytic subunit and
GLRX3
. These results suggest that variation in genes involved in counterbalancing oxidative stress may contribute to autism, though replication is necessary.
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Details
- Title
- Glutathione pathway gene variation and risk of autism spectrum disorders
- Creators
- Katherine Bowers - BloombergQing Li - BloombergJoseph Bressler - BloombergDimitrios Avramopoulos - Johns Hopkins UniversityCraig Newschaffer - Drexel UniversityM. Daniele Fallin - Bloomberg
- Publication Details
- Journal of neurodevelopmental disorders, v 3(2), pp 132-143
- Publisher
- Springer Nature
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- School of Biomedical Engineering, Science, and Health Systems; A.J. Drexel Autism Institute
- Web of Science ID
- WOS:000294711300005
- Scopus ID
- 2-s2.0-79958038500
- Other Identifier
- 991019169558004721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Clinical Neurology
- Neurosciences