In a study led by Washington University that includes BYU, researchers have identified a gene that doubles one's risk of developing Alzheimer's disease. The findings have been published in the journal Nature.

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A research collaboration led by Washington University has found a gene variation that doubles one's risk of developing Alzheimer's disease. The finding adds to a rapidly accelerating body of information about the neurodegenerative disease, which affects more than 5 million Americans.

The findings are published online in the journal Nature.

"The newly identified variations, found in a gene never before linked to Alzheimer's, occur rarely in the population, making them hard for researchers to identify," according to the study's background information. "But they're important because individuals who carry these variations are at substantially increased risk of the disease."

"Most of the genes that were discovered for Alzheimer's in the past two years have very minor effect," said John Kauwe, a biology professor at Brigham Young University who co-authored the study. He said that 19 of the "20-some-odd" genes linked to Alzheimer's in the last five years each affect risk by just 1 to 3 percent.

The methodology for this study was also important, according to Kauwe and Carlos Cruchaga, assistant professor of psychiatry at Washington University, who led the study. Cruchaga said it will open new doors to understanding the disease and how gene variants affect risk, either in combination or alone.

They took a different approach to finding the variants. Instead of taking a scattershot approach and looking at the largest number of subjects possible, they selected pedigrees that had interesting patterns of inheritance and were already identified as having multiple members with Alzheimer's, then drilled down to find the actual genetic variants.

Washington University identified and evaluated families, finding a number of things researchers wanted to focus on, then asked BYU researchers to help examine those questions.

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Rare gene discovered that doubles Alzheimer's risk

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