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

Overview of attention for article published in BMC Genomics, January 2015
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Title
Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation
Published in
BMC Genomics, January 2015
DOI 10.1186/s12864-014-1211-8
Pubmed ID
Authors

Eric F Lock, Karen L Soldano, Melanie E Garrett, Heidi Cope, Christina A Markunas, Herbert Fuchs, Gerald Grant, David B Dunson, Simon G Gregory, Allison E Ashley-Koch

Abstract

BackgroundExpression 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.ResultsWe present an assessmet 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.ConclusionsDespite 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.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 35 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 3%
Unknown 34 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 9 26%
Researcher 7 20%
Student > Postgraduate 3 9%
Student > Bachelor 3 9%
Lecturer 2 6%
Other 7 20%
Unknown 4 11%
Readers by discipline Count As %
Agricultural and Biological Sciences 11 31%
Medicine and Dentistry 6 17%
Biochemistry, Genetics and Molecular Biology 4 11%
Neuroscience 4 11%
Computer Science 2 6%
Other 2 6%
Unknown 6 17%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 25 January 2015.
All research outputs
#19,319,803
of 24,598,501 outputs
Outputs from BMC Genomics
#7,984
of 11,013 outputs
Outputs of similar age
#252,631
of 361,769 outputs
Outputs of similar age from BMC Genomics
#206
of 278 outputs
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