But what makes the current finding so interesting is how it might connect to previous research about MTHFD1L. The gene is involved with the metabolism of folate, which in turn can influence levels of homocysteine.
Elevated homocysteine, which is often tied to folic acid deficiencies in the diet, have been shown to be a risk factor for coronary artery disease and late-onset Alzheimer's.
Previous genome-wide studies have also implicated another variation in MTHFD1L in coronary artery disease.
Taken together, the research hints at ways in which the gene variant might be associated with changes in blood vessel function in the brain that impact Alzheimer's, Pericak-Vance said.
"The key reason people are excited about this is that it melds the genetics and the biology," Pericak-Vance said. "Maybe we can put the biology together with genetics and come up with some way to either treat it or approach it."
While lots of genetic variants have been singled out as possible contributors to Alzheimer's, the findings often can't be replicated or repeated, leaving researchers unsure if the results are a coincidence or actually important, said Dr. Ron Peterson, director of the Mayo Alzheimer's Disease Research Center in Rochester, Minn.
"The strength of his study is it includes a large number of subjects, they looked at a large number of [DNA sequence variations], and they replicated previously reported findings, which gives you confidence that they are correct," Peterson said.
The study is slated to be presented April 14 at the American Academy of Neurology's meeting in Toronto.
The National Institute on Aging has more on the genetics of Alzheimer's.
SOURCES: Margaret Peri
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