Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association
A BersanoSVE-LA project collaborators

Abstract

The pathogenesis of cerebral small-vessel disease (SVD) is still incompletely understood, although evidence from family and twin studies supports the hypothesis that genetic factors may contribute to SVD pathogenesis. Identification of genetic susceptibility factors for SVD may improve our knowledge on SVD pathogenesis. SVE-LA (Small Vessel and Lacunar) project is a multicenter prospective Lombardia region study aimed at applying innovative genetic technologies and accurate patient phenotyping to discover the genetic basis of SVD. A continuous series of subjects (aged 15-80 years) with a clinically and radiologically defined lacunar stroke referring to the participating Lombardia region stroke centers and an adequate number of age- and sex-matched controls are being included into the study. For each patient, clinical, demographic, instrumental, and familial data are collected applying standardized forms. After informed consent, a DNA sample for genetic analysis from patients and controls has been collected. The next generation sequencing (NGS) technology was applied to systematically screen patients for the most important genetic factors both monogenic and polygenic associated with SVD. The study includes also a centralized qua...Continue Reading

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Oct 26, 2018·European Journal of Human Genetics : EJHG·Andreea IlincaArne G Lindgren
May 23, 2020·Current Atherosclerosis Reports·Minghua Liu, Jose Gutierrez
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