Large genome-wide association study identifies new Alzheimer’s disease risk genes in African-American individuals

19/10/2020

On 19 October, Dr. Brian Kunkle and a team of coinvestigators from the Alzheimer’s Disease Genetics Consortium (ADGC) published an article in JAMA Neurology identifying several risk genes and pathways that occur more frequently in African-American individuals. Well-established Alzheimer’s disease risk variants such as ApoE4 were identified through large-scale genomic studies that scan the genomes of hundreds or thousands of people to find genetic signatures associated with a particular trait or condition. However, many of these studies were conducted in predominantly non-hispanic white populations, which means that the genetic variation specific to non-white, BAME groups may not have been adequately captured.

To address this issue, Dr. Kunkle and colleagues performed a genome-wide association study(GWAS) of datasets from 8006 African-American individuals from the ADGC, including 2784 with Alzheimer’s disease (AD).  Analysis of the genomes of these individuals confirmed the results of previous studies identifying APOE and ABCA7 as risk loci for AD, as well as variants in or near to the loci for TREM2 and AKAP9 – showing that there is some overlap in genetic risk between populations with different ethnic backgrounds. The researchers also identified several novel risk loci and pathways for AD specific to African-American individuals, although pathways such as immunity and lipid processing were shared across ethnic groups.  

https://jamanetwork.com/journals/jamaneurology/fullarticle/2771828?resultClick=1