Using an intensive, genome-wide association analysis study (GWAS), the researchers identified two new genes at specific locations in the DNA called loci that reached the required genome-wide statistical significance threshold for the first time, thus identifying them as very likely associated with AD.
They were found on chromosomes 2 and 19, the first being close to a gene called BIN1 (Bridging Intergrator 1) on chromosome 2 and the second being close to several genes including EXOC3L2, BLOC1S3 and MARK4 on chromosome 19. These findings were replicated in an independent population.
"Identifying each of these new genes, one on chromosome 2 and a second locus on chromosome 19, points to new biological pathways involved in the development of AD," said senior author Sudha Seshadri, MD, an associate professor of neurology at BUSM and an Investigator at the Framingham Heart Study. "Although such benefits are likely a decade away, studying these pathways should lead to new ways to postpone, prevent and perhaps treat the disease," she added.
Citation: Seshadri et al., 'Genome-wide Analysis of Genetic Loci Associated With Alzheimer Disease', JAMA, May 2010, 303: 1832 - 1840
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