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In Reply We appreciate the interest of Jiang et al and the research community in our work examining genetic overlap between Alzheimer disease (AD) and autoimmune disease. As we noted in our article,1 given the extensive linkage disequilibrium structure of regions, such as the HLA on chromosome 6, additional work certainly needs to be done, not only with gene expression but also in deciphering the causal variants that influence AD pathogenesis. Indeed, studies to identify additional genes whose expression in the brain may be influenced by rs2516049 and rs12570088 (and variants in linkage disequilibrium with these) will be critical for elucidating the relevance of associated single-nucleotide variants with underlying AD biology.
Yokoyama JS, Desikan RS. Association of Alzheimer Disease Susceptibility Variants and Gene Expression in the Human Brain—Reply. JAMA Neurol. 2016;73(10):1255. doi:10.1001/jamaneurol.2016.2799