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 InfoAshley-Koch, A; Cope, Heidi; Dunson, David B; Fuchs, Herbert Edgar; Garrett, ME; Grant, Gerald Arthur; ... Soldano, Karen L (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
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.
Arts and Sciences Professor of Statistical Science
Development of novel approaches for representing and analyzing complex data. A particular focus is on methods that incorporate geometric structure (both known and unknown) and on probabilistic approaches to characterize uncertainty. In addition, a big interest is in scalable algorithms and in developing approaches with provable guarantees.This fundamental work is directly motivated by applications in biomedical research, network data analysis, neuroscience, genomics, ecol
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.
Professor in Neurology
My principal area of research involves elucidating the molecular mechanisms underlying multi-factorial diseases. My lab is primarily interested identifying the complex genetic factors that give rise to multiple sclerosis, autism and cardiovascular disease. We are using targeted approaches to identify differential methylation of the oxytocin receptor gene (OXTR) in individuals with autism, and applying these data to an NICHD funded ACE award, SOARS-B, to assess long term use of oxytocin nasal spr
Alphabetical list of authors with Scholars@Duke profiles.