Fig. 4. Association of rs2228145 in IL6R with earlier age of AD onset in APOE4 carriers.
(A) The IL6R risk allele discovered in our modifier screen changes the 358th amino acid in IL-6R from D to A. This amino acid lies at the cleavage site for IL-6R. Box = transmembrane spanning residues. (B) Summary of association at rs2228145 in the five datasets. The case and controls frequencies are those of the minor allele “C”.