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Alzheimer’s Consortium Identifies Five New Genes for Disease Risk

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The Alzheimer’s Disease Genetics Consortium (ADGC) led by the University of Pennsylvania School of Medicine, the University of Miami, and the Boston University School of Medicine, recently identified five new genes linked to late-onset Alzheimer’s disease. The study, published in the journal Nature Genetics, describes data on ABCA7, MS4A6A/MS4A4E, CD2AP, CD33 and EPHA1, each of which contribute to the risk of dementia later in life.

Until recently, only four other genes were confirmed to be associated with late-onset Alzheimer’s disease: apolipoprotein E (APOE, specific allele ApoE4), presenilin 1 (PSEN1), presenilin 2 (PSEN2) and amyloid precursor protein (APP). In the current study, the ADGC evaluated more than 11,000 people with Alzheimer’s disease and a nearly equal number of elderly people who have no symptoms of dementia. Three other consortia contributed confirming data from additional people, bringing the total number of people analyzed to over 54,000. Genome-wide association analysis identified the new Alzheimer’s disease susceptibility loci.

The study is the result of a large collaborative effort with investigators from 44 universities and research institutions in the United States, led by Gerard D. Schellenberg, PhD, at Penn, with primary analysis sites at Miami, led by Margaret A. Pericak-Vance, PhD, and Boston, led by Lindsay A. Farrer, PhD.

According to Schellenberg:

This is the culmination of years of work on Alzheimer’s disease by a large number of scientists, yet it is just the beginning in defining how genes influence memory and intellectual function as we age. We are all tremendously excited by our progress so far, but much remains to be done, both in understanding the genetics and in defining how these genes influence the disease process.

Study: Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease

Pubmed: View abstract

Source: Penn Medicine