Through a large population genomics study conducted by the CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) consortium, a missense variant in TM2D3 was found to be associated with both increased (7.5 times) risk and earlier (~10 years) age-of-onset for late-onset Alzheimer's disease (LOAD). We contributed to this study by demonstrating that the LOAD-associated variant in this gene does indeed have functional consequence by 'humanizing' the fruit flies.
Comments