On 29 March, researchers from Boston University School of Public Health published a study investigating rare genetic variants associated with Alzheimer’s disease (AD) risk in the journal JAMA Network Open. Scientists performed a genetic association study of more than 5.600 participants with AD and 4.500 controls from data generated by the Alzheimer’s Disease Sequencing Project (ADSP). They analysed rare genetic variants that were present in people with AD but not in the controls. A total of 24 genetic variants from 19 genes were reported. Scientists highlighted two rare genetic variants that might be associated with AD and other types of dementia. They are located in the NOTCH3 gene and the TREM2 gene. According to the researchers, the NOTCH3 variant has not been described in AD. Mutations in this gene have been associated with cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a disorder marked by severe headaches in young adulthood followed by strokes and dementia later in life. Mutations in the TREM2 gene have been described in AD in previous studies. In the published study, authors noted that different genetic variants were described in the same gene and suggested that mutations in the same gene can result in different types of dementia.
