Stroke: Study reveals genetic risk factors for stroke

JANUARY 20, 2021 /--- In a recent study, researchers from Geisinger identified common genetic variants as risk factors for stroke, especially in patients over 65.
small cerebrovascular disease (SVD) causes about a quarter of the world's isothemia strokes 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 disorder caused by this genetic mutation, called cesomal chromosomal explicit hereditary arterial disease (CADASIL), accompanied by subsurgenal infarction and white encephalopathy, is associated with an increased risk of SVD and stroke.
study, publish.com ed in the journal Stroke, researchers evaluated a range of health records in more than 300 Geisinger patients, including imaging and genome sequencing data, 118 of which showed NOTCH3 mutations.
in this group, 12.6 percent had a history of stroke, compared with 4.9 percent in the control group.
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 the NOTCH3 gene variant, it was rare to see a specific mutation that caused CADASIL.
the study team wrote that 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 study showed that most individuals with THETCH3 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.
to analyze their risk factors and identify ways to improve patient prognosis as a key part of improving patient care.
," said Dr. Ramin Zand, M.D., a vascular neurologist and clinical scientist at Geisinger and co-author of the study, "This study represents a novel and effective way to study the genetic basis of neurological disorders.
geisinger's unique resources, its electronic health records and focus on precision medicine enable us to use this data to provide better care for all of our patients.
" (Bioon.com) Source: Research identifies genetic risk factor for stroke Original source: Raj N. Kalaria et al, Top-NOTCH3 Variants in the Population at Large, Stroke (2020). DOI: 10.1161/STROKEAHA.120.031609