Two genes identified as contributor to Alzheimer's disease

Human gene map. (Xinhua/File Photo)

LOS ANGELES, May 11 (Xinhua) -- Two genes may play a role in the development of late-onset Alzheimer's disease (AD), a new study finds.

Using an intensive, genome-wide association analysis study ( GWAS), a team of researchers identified the 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.

The genes were found on chromosomes two and 19, the first being close to a gene called BIN1 (Bridging Intergrator 1) on chromosome two 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 two 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 Boston University School of Medicine (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.

The findings were published in the May issue of the Journal of the American Medical Association.

It is estimated that one of every five persons aged 65 years will develop AD in their lifetime, and that one in 10 baby boomers will develop the disease before they die. Genetic variants appear to play an important part in the development of the disease since having parents or siblings with the disease increases a person's risk.

The BUSM researchers joined with several leading world-wide epidemiological researchers who were also studying AD in population cohorts. The researchers combined their data with published data and assembled the largest sample to date, over 35, 000 persons of whom over 8,000 developed AD.

"This highly collaborative international effort enabled researchers to build the large sample size needed to identify elusive gene variants that may play a role in this devastating neurological disease," said Marilyn Miller, PhD, of the National Institute on Aging, which funds the collection of AD data in the study.

"Such collaborations are key to a fuller understanding of the many genetic factors that may contribute to overall risk for late onset Alzheimer's and how these genes affect the development of the disease."

Editor: Sun Yunlong






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