New discovery may explain why women at higher risk for Alzheimer’s disease

Story at a glance


  • Researchers found the relationship through a genome-wide association study for Alzheimer’s using two independent datasets and different methods.


  • Each approach indicated a relationship between a new gene called MGMT and developing the disease.


  • A recent survey from the Women’s Alzheimer’s Movement at the Cleveland Clinic found 82 percent of women were unaware of their elevated risk for Alzheimer’s.


A new gene could explain why women are at a higher risk of developing Alzheimer’s disease than men, according to a recent study.

Researchers at the University of Chicago and Boston University School of Medicine identified a new gene called MGMT, O6-Methylguanine-DNA-methyltransferase, which could increase the risk of Alzheimer’s in women.

The team uncovered the relationship through a genome-wide association study for Alzheimer’s using two independent datasets and different methods. Each approach indicated a relationship between MGMT and developing the disease.

The first approach concentrated on an extended family of a founder population of European ancestry –known as Hutterites – who researchers say are commonly used for studies given their small gene pool and isolated culture. All people in this dataset with Alzheimer’s were women.

In the second approach, researchers analyzed genetic data from a national group of 10,340 women who lacked APOE ε4, a genetic variant known to increase the risk of Alzheimer’s. Researchers noted 60 percent of people of European ancestry with Alzheimer’s carry this genetic variant.

“This is one of a few and perhaps the strongest associations of a genetic risk factor for Alzheimer’s that is specific to women,” said Lindsay Farrer, chief of biomedical genetics at BUSM and a senior author of the study.

“This finding is particularly robust because it was discovered independently in two distinct populations using different approaches,” Farrer continued. “While the finding in the large dataset was most pronounced in women who don’t have APOE ε4, the Hutterite sample was too small to evaluate this pattern with any certainty.”

Researchers then evaluated MGMT by analyzing brain tissue, finding the way MGMT, which plays a part in repairing DNA damage, is associated with developing Alzheimer’s-linked proteins amyloid-β and tau.


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A recent survey from the Women’s Alzheimer’s Movement at the Cleveland Clinic found 82 percent of women were unaware of their elevated risk for Alzheimer’s. Nearly three-quarters of those surveyed have not discussed their brain health with a physician.

At least for of the 6 million U.S. adults with the disease are women, whose risk of developing it at age 65 are 1 in 5.

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