Article
A Common Variant of IL-6R is Associated with Elevated IL-6 Pathway Activity in Alzheimer's Disease Brains.
Journal of Alzheimer's disease : JAD - 1 Jan 2017
Haddick Patrick C G, Larson Jessica L, Rathore Nisha, Bhangale Tushar R, Phung Qui T, Srinivasan Karpagam, Hansen David V, Lill Jennie R, Pericak-Vance Margaret A, Haines Jonathan, Farrer Lindsay A, Kauwe John S, Schellenberg Gerard D, Cruchaga Carlos, Goate Alison M, Behrens Timothy W, Watts Ryan J, Graham Robert R, Kaminker Joshua S, van der Brug Marcel
Abstract excerpt
The common p.D358A variant (rs2228145) in IL-6R is associated with risk for multiple diseases and with increased levels of soluble IL-6R in the periphery and central nervous system (CNS). Here, we show that the p.D358A allele leads to increased proteolysis of membrane bound IL-6R and demonstrate that IL-6R peptides with A358 are more susceptible to cleavage by ADAM10 and ADAM17. IL-6 responsive genes were...
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