Show simple item record

Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation.

dc.contributor.author Ashley-Koch, A
dc.contributor.author Cope, Heidi
dc.contributor.author Dunson, David B
dc.contributor.author Fuchs, Herbert Edgar
dc.contributor.author Garrett, ME
dc.contributor.author Grant, Gerald Arthur
dc.contributor.author Gregory, Simon Gray
dc.contributor.author Lock, EF
dc.contributor.author Markunas, CA
dc.contributor.author Soldano, Karen L
dc.coverage.spatial England
dc.date.accessioned 2017-10-01T21:17:50Z
dc.date.available 2017-10-01T21:17:50Z
dc.date.issued 2015-01-22
dc.identifier https://www.ncbi.nlm.nih.gov/pubmed/25609184
dc.identifier s12864-014-1211-8
dc.identifier.uri http://hdl.handle.net/10161/15599
dc.description.abstract 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.
dc.language eng
dc.relation.ispartof BMC Genomics
dc.relation.isversionof 10.1186/s12864-014-1211-8
dc.subject Adolescent
dc.subject Arnold-Chiari Malformation
dc.subject Bone Development
dc.subject Child
dc.subject Child, Preschool
dc.subject Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
dc.subject Dura Mater
dc.subject Female
dc.subject Gene Regulatory Networks
dc.subject Genotype
dc.subject Humans
dc.subject Male
dc.subject Pentosyltransferases
dc.subject Polymorphism, Single Nucleotide
dc.subject Quantitative Trait Loci
dc.subject beta Karyopherins
dc.title Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation.
dc.type Journal article
pubs.author-url https://www.ncbi.nlm.nih.gov/pubmed/25609184
pubs.begin-page 11
pubs.organisational-group Basic Science Departments
pubs.organisational-group Biostatistics & Bioinformatics
pubs.organisational-group Center for Child and Family Policy
pubs.organisational-group Clinical Science Departments
pubs.organisational-group Duke
pubs.organisational-group Duke Cancer Institute
pubs.organisational-group Duke Institute for Brain Sciences
pubs.organisational-group Duke Molecular Physiology Institute
pubs.organisational-group Electrical and Computer Engineering
pubs.organisational-group Institutes and Centers
pubs.organisational-group Institutes and Provost's Academic Units
pubs.organisational-group Medicine
pubs.organisational-group Medicine, Nephrology
pubs.organisational-group Molecular Genetics and Microbiology
pubs.organisational-group Neurology
pubs.organisational-group Neurology, MS & Neuroimmunology
pubs.organisational-group Neurosurgery
pubs.organisational-group Pathology
pubs.organisational-group Pediatrics
pubs.organisational-group Pratt School of Engineering
pubs.organisational-group Sanford School of Public Policy
pubs.organisational-group School of Medicine
pubs.organisational-group Staff
pubs.organisational-group Statistical Science
pubs.organisational-group Trinity College of Arts & Sciences
pubs.organisational-group University Institutes and Centers
pubs.publication-status Published online
pubs.volume 16
dc.identifier.eissn 1471-2164


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record