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Researchers Link Gene Variant in Women to Alzheimer’s


Researchers have found that women with a particular variation in their genes may be more likely to develop late-onset Alzheimer’s disease.

Scientists at the Mayo Clinic conducted a study of Alzheimer’s patients in two stages researching all of the subjects’ genomes. They found that women born with two copies of a variation of the PCDH11X gene, which is on the X chromosome, have a markedly increased risk of Alzheimer’s development. There was a lesser risk for those women with the variation on one of the two X chromosomes. That risk was also increased for men with the variation on their one X chromosome.

While saying more study is needed, the researchers called this among the clearest risk factors identified so far.

Dr. Steven Younkin, who is a consultant and researcher at the Florida location of the Mayo Clinic, was the lead on the project. His team found the variation in the gene by viewing the entire genome of 844 Alzheimer’s disease patients and 1,255 control subjects who did not have the disease. They then did a second-stage study to verify results with 1,547 Alzheimer’s patients and a control group of 1,209.

Researchers found the gene variation in 79 percent of unaffected women, with 50 percent of the test subjects having one copy and 29 percent having two. The next step will be to do additional study of the gene to understand how the variation in it contributes to Alzheimer’s.

The study was funded in part by the Robert and Clarice Smith Postdoctoral Fellowship; the Robert and Clarice Smith and Abigail Van Buren Alzheimer’s Disease Research Program; and the Palumbo Professorship in Alzheimer’s Disease Research.

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