Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation.
Repository Usage Stats
BACKGROUND: Expression quantitative trait loci (eQTL) play an important role in the regulation of gene expression. Gene expression levels and eQTLs are expected to vary from tissue to tissue, and therefore multi-tissue analyses are necessary to fully understand complex genetic conditions in humans. Dura mater tissue likely interacts with cranial bone growth and thus may play a role in the etiology of Chiari Type I Malformation (CMI) and related conditions, but it is often inaccessible and its gene expression has not been well studied. A genetic basis to CMI has been established; however, the specific genetic risk factors are not well characterized. RESULTS: We present an assessment of eQTLs for whole blood and dura mater tissue from individuals with CMI. A joint-tissue analysis identified 239 eQTLs in either dura or blood, with 79% of these eQTLs shared by both tissues. Several identified eQTLs were novel and these implicate genes involved in bone development (IPO8, XYLT1, and PRKAR1A), and ribosomal pathways related to marrow and bone dysfunction, as potential candidates in the development of CMI. CONCLUSIONS: Despite strong overall heterogeneity in expression levels between blood and dura, the majority of cis-eQTLs are shared by both tissues. The power to detect shared eQTLs was improved by using an integrative statistical approach. The identified tissue-specific and shared eQTLs provide new insight into the genetic basis for CMI and related conditions.
Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
Gene Regulatory Networks
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Published Version (Please cite this version)10.1186/s12864-014-1211-8
Publication InfoLock, Eric F; Soldano, Karen L; Garrett, Melanie E; Cope, Heidi; Markunas, Christina A; Fuchs, Herbert; ... Ashley-Koch, Allison E (2015). Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation. BMC Genomics, 16. pp. 11. 10.1186/s12864-014-1211-8. Retrieved from https://hdl.handle.net/10161/15599.
This is constructed from limited available data and may be imprecise. To cite this article, please review & use the official citation provided by the journal.
More InfoShow full item record
Allison Elizabeth Ashley-Koch
Professor in Medicine
One of my major research foci is in the genetic basis of psychiatric and neurological disorders. I am currently involved in studies to dissect the genetic etiology of attention deficit hyperactivity disorder (ADHD), autism, chiari type I malformations, essential tremor, and neural tube defects. Additional research foci include genetic modifiers of sickle cell disease, and genetic contributions to birth outcomes, particularly among African American women.
David B. Dunson
Arts and Sciences Distinguished Professor of Statistical Science
My research focuses on developing new tools for probabilistic learning from complex data - methods development is directly motivated by challenging applications in ecology/biodiversity, neuroscience, environmental health, criminal justice/fairness, and more. We seek to develop new modeling frameworks, algorithms and corresponding code that can be used routinely by scientists and decision makers. We are also interested in new inference framework and in studying theoretical properties
Herbert Edgar Fuchs
Professor of Neurosurgery
Clinical neuro-oncology research including collaborations studying molecular genetics of childhood brain tumors. Potential role of the free electron laser in surgery of pediatric brain tumors. Current work includes animal models with human brain tumor xenografts in preclinical studies. Collaboration with the neurooncology laboratory of Dr. Darell Bigner in preclinical studies of new therapeutic agents.
Gerald Arthur Grant
Professor of Neurosurgery
Simon Gray Gregory
Professor in Neurosurgery
Dr. Gregory is a tenured Professor and Director of the Brain Tumor Omics Program (BTOP) in the Duke Department of Neurosurgery, the Vice Chair of Research in the Department of Neurology, and Director of the Molecular Genomics Core at the Duke Molecular Physiology Institute. As a neurogenomicist, Dr. Gregory applies the experience gained from leading the sequencing of chromosome 1 for the Human Genome Project to elucidating the mechanisms underlying multi-factorial
Alphabetical list of authors with Scholars@Duke profiles.
Articles written by Duke faculty are made available through the campus open access policy. For more information see: Duke Open Access Policy
Rights for Collection: Scholarly Articles
Works are deposited here by their authors, and represent their research and opinions, not that of Duke University. Some materials and descriptions may include offensive content. More info