Scientists at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital are part of a multicenter collaborative study that has identified a novel genetic risk factor for late-onset Alzheimer’s disease. The study appears in the journal PLoS Genetics.
Alzheimer’s disease is the most common cause of dementia among older adults, and the presence of certain genetic variants increases an individual’s risk for developing this disease.
Baylor researchers Dr. Shinya Yamamoto, assistant professor of molecular and human genetics; Dr. Joshua M. Shulman, assistant professor of neurology, neuroscience, and molecular and human genetics; Dr Eric Boerwinkle, associate director of the Human Genome Sequencing Center; and Dr. Hugo J. Bellen, professor and director of the program in developmental biology and also an investigator at the Howard Hughes Medical Institute, were part of an international team that analyzed samples from 1,393 subjects with late-onset Alzheimer’s disease and compared the results with those of 8,141 neurologically healthy individuals.
The consortium found a variant in TM2D3, a gene that has never been studied in human or other vertebrate species. Interestingly, while the probability of this variant was very rare among people of European ancestry, it was significantly enriched among Icelanders (but still less than 1 percent frequency). The researchers estimated that carriers of this variant would have an approximately six-fold increased risk of developing Alzheimer’s disease.