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

January 22, 2015
Authors: Lock EF, Soldano KL, Garrett ME, Cope H, Markunas CA, Fuchs H, Grant G, Dunson DB, Gregory SG, Ashley-Koch AE.
 
Abstract: 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.
 
Lock EF, et al. BMC Genomics. 2015;16(11). 

 

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PubMed ID

25609184