Studies reveal genetic risk factors for stroke

recent study, researchers from Geisinger identified common genetic variants as risk factors for stroke, especially in patients over 65.Cerebral microvascular disease (SVD) causes about a quarter of all isomorric strokes worldwide and is the most common cause of vascular dementia. SVD can manifest it as a brain lesion, usually on brain scans. SVD is usually associated with aging and high blood pressure, but in a few cases it is caused by a change in cysteine in the NOTCH3 gene. About 1 in 300 people has this type of genetic mutation. Rare genetic disorders caused by this genetic mutation, known as cerebral consomal explicit hereditary arterial disease (CADASIL), accompanied by subsurgen infarction and white encephalopathy, are associated with an increased risk of SVD and stroke.In the study, published in the journal Stroke, researchers evaluated a range of health records, including imaging and genome sequencing data, from more than 300 Geisinger patients, 118 of whom showed NOTCH3 mutations. In this group, 12.6 percent had a history of stroke, compared with 4.9 percent in the control group. The risk of wind is significantly higher in people over 65 years of age, and the number of white lesions in the brain is higher. Although all 118 patients in the study group had THETCH3 gene variants, specific mutations that cause CADASIL were rarely seen.Because of the high population frequency of the NOTCH3 variant, the number of individuals at higher risk of SVD and stroke due to the NOTCH3 variant is significant, the team wrote. The study showed that most individuals with THE NOTCH3 variant developED SVDs associated with NOTCH3 after the age of 65.

is a complex multi-factor disease," said Dr. Vida Abedi, a scientist in the Department of Molecular and Functional Genomics at Geisinger. Dissecting its risk factors and determining ways to improve patient prognosis are key parts of improving patient care. Dr , M.D., a vascular neurologist and clinical scientist at Geisinger and co-author of the study, said, "This study represents a novel and effective way to study the genetic basis of neurological disorders. Geisinger's unique resources, electronic health records and focus on precision medicine enable us to leverage this data to provide better care for all of our patients. (Bio Valley
)source: Research identifies genetic risk factor stroke forOriginal source: Raj N. Kalaria et al, Top-NOTCH3 Variants in the Population at Large, Stroke (2020). DOI: 10.1161/STROKEAHA.120.031609