• Hohman TJ, Koran ME, Thornton-Wells TA. Genetic variation modifies risk for neurodegeneration based on biomarker status. Frontiers in aging neuroscience. 6. 183 p. PMID: 25140149 [PubMed]. PMCID: PMC4121544.

Abstract 

While a great deal of work has gone into understanding the relationship between Cerebrospinal fluid (CSF) biomarkers, brain atrophy, and disease progression, less work has attempted to investigate how genetic variation modifies these relationships. The goal of this study was two-fold. First, we sought to identify high-risk vs. low-risk individuals based on their CSF tau and Aβ load and characterize these individuals with regard to brain atrophy in an AD-relevant region of interest. Next, we sought to identify genetic variants that modified the relationship between biomarker classification and neurodegeneration.