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Gene variation could increase risk for late-onset Alzheimer’s

By Craig Boerner
January 2011

Researchers have identified a genetic variation that appears to nearly double the risk of developing late-onset Alzheimer’s disease, according to a genome-wide association study released in the Sept. 23 issue of the journal PLoS Genetics.

Small differences in the genetic sequences of MTHFD1L, a gene on chromosome six, were identified in 2,269 participants with late-onset Alzheimer’s disease and 3,107 without Alzheimer’s disease.

Individuals with the genetic variation were almost twice as likely to develop Alzheimer’s disease, according to co-author Jonathan Haines, Ph.D., director of Vanderbilt’s Center for Human Genetics Research.

“By applying the new tools of genomics we are now making rapid progress in finding out what genetic changes are involved in Alzheimer’s disease,” Haines said.

“These findings will lead to a better understanding of what’s happening in Alzheimer’s disease, and how we can improve treatments.”

The World Health Organization estimates there are currently 18 million people worldwide with Alzheimer’s disease, which is projected to nearly double to 34 million by 2025.

“This finding gives us unique insight into possible interactions between genetic and environmental risk factors that contribute to Alzheimer’s disease,” said Joseph Buxbaum, Ph.D., Department of Psychiatry, Mount Sinai School of Medicine. “We know of environmental and lifestyle factors that can impact homocysteine levels and it will be important to understand whether variations of the MTHFD1L gene can modulate these effects.”

In addition to Haines, the collaborative team of researchers was led by Margaret Pericak-Vance, Ph.D., director of the John P. Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine.

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