Researchers Identify Genetic Risk Factor for Stroke in Older Adults

A study in Stroke identified a gene variant in approximately one in 300 people as a significant genetic risk factor for stroke in older adults, reports Health IT Analytics . Cerebral small vessel disease (SVD), responsible for about a quarter of ischemic strokes worldwide, is commonly associated with aging and hypertension — but a small number of cases are induced by cysteine altering variants in the NOTCH3 gene. A rare genetic condition called cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, caused by a NOTCH3 variant, is linked to SVD and a higher risk of stroke. Geisinger investigators reviewed health records, including imaging and genomic sequencing data, of over 300 patients: 118 had a NOTCH3 variant and 12.6 percent had a history of stroke compared with 4.9 percent of those in a control cohort. Stroke risk was significantly higher in those older than 65, and subjects had more white matter lesions on the brain. Given the high population frequency of NOTCH3 variants, the implication is that most individuals with a NOTCH3 variant will develop NOTCH3-associated SVD after age 65. "This study represents a novel and powerful approach to studying the genetic basis of neurologic disease," said Geisinger's Ramin Zand. "Geisinger's unique resources, its electronic health records, and focus on precision medicine allows us to leverage this data to provide better care for all of our patients."