The genetic underpinnings of Alzheimer’s disease have been a mystery that has eluded medical researchers for a number of years. While getting at the root of the problem is only possible at a slow pace, advances haven’t been forthcoming at a steady chat, stalling the treatment scenario for the disease, which is becoming increasingly prevalent in the world’s growing geriatric population.
New research has shed more light on the causes of Alzheimer’s disease. Two new genes responsible for Alzheimer’s have been identified by researchers jointly led by Julie Williams, professor at the University of Cardiff in Wales. The study was published in Nature Genetics, while the findings were released at the 2017 Alzheimer’s Association International Conference (AAIC) in London.
What Does the Study Say?
The researchers examined the DNA of more than 85,000 individuals in order to discover the association between genetic variants and the prevalence of Alzheimer’s disease. More than 450 researchers were part of the team, making it a “massive undertaking”, as Prof. Williams described it at the AAIC.
While there are 30 known genetic locations that act as indicators for an increased risk of late onset Alzheimer’s disease (LOAD), there are what are known as rare genetic variants, which contribute heavily to the risk of inheriting LOAD.
The researchers first genotyped 34,174 samples with whole-exome microarray technology and tested the variants identified in these patients by testing 35,962 independent samples using genotype imputation and de novo genotyping. In the third stage, close to 15,000 samples were further studied to identify the most important of the associations identified in the second stage. From the more than 200,000 variants identified in the first stage of the testing, researchers eventually narrowed the search down to two genes hitherto not believed to have implications on the occurrence of Alzheimer’s disease. A new mutation of a previously known variant associated with Alzheimer’s was also observed.