Abstract
Background: 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. Methods: 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 quantitative and qualitative analysis of neuroimaging studies. Results: Between March 2011 and October 2013, 212 lacunar stroke patients and 78 controls have been collected. Mean age of cases was 65.8 ± 11.1 years and 67% were men. Conclusions: This is the first study applying systematically NGS technology on a wide series of lacunar stroke patients. A translational approach combining a systematic genetic screening with a detailed phenotyping may facilitate the discovery of genetic basis and improve our knowledge in the pathogenesis of SVD.
| Original language | English |
|---|---|
| Pages (from-to) | 759-765 |
| Number of pages | 7 |
| Journal | Journal of Stroke and Cerebrovascular Diseases |
| Volume | 24 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - 2015 |
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Keywords
- Genetics
- Lacunar stroke
- Monogenic disorders
- Next generation sequencing
- Polygenic
- Small-vessel disease
ASJC Scopus subject areas
- Clinical Neurology
- Surgery
- Rehabilitation
- Cardiology and Cardiovascular Medicine
- Medicine(all)
Cite this
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke. / Bersano, Anna; Zuffardi, Orsetta; Pantoni, Leonardo; Quaglini, Silvana; Ciccone, Roberto; Vetro, Annalisa; Persico, Alessandra; Denaro, Maria Federica; Micieli, Giuseppe.
In: Journal of Stroke and Cerebrovascular Diseases, Vol. 24, No. 4, 2015, p. 759-765.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke
AU - Bersano, Anna
AU - Zuffardi, Orsetta
AU - Pantoni, Leonardo
AU - Quaglini, Silvana
AU - Ciccone, Roberto
AU - Vetro, Annalisa
AU - Persico, Alessandra
AU - Denaro, Maria Federica
AU - Micieli, Giuseppe
PY - 2015
Y1 - 2015
N2 - Background: 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. Methods: 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 quantitative and qualitative analysis of neuroimaging studies. Results: Between March 2011 and October 2013, 212 lacunar stroke patients and 78 controls have been collected. Mean age of cases was 65.8 ± 11.1 years and 67% were men. Conclusions: This is the first study applying systematically NGS technology on a wide series of lacunar stroke patients. A translational approach combining a systematic genetic screening with a detailed phenotyping may facilitate the discovery of genetic basis and improve our knowledge in the pathogenesis of SVD.
AB - Background: 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. Methods: 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 quantitative and qualitative analysis of neuroimaging studies. Results: Between March 2011 and October 2013, 212 lacunar stroke patients and 78 controls have been collected. Mean age of cases was 65.8 ± 11.1 years and 67% were men. Conclusions: This is the first study applying systematically NGS technology on a wide series of lacunar stroke patients. A translational approach combining a systematic genetic screening with a detailed phenotyping may facilitate the discovery of genetic basis and improve our knowledge in the pathogenesis of SVD.
KW - Genetics
KW - Lacunar stroke
KW - Monogenic disorders
KW - Next generation sequencing
KW - Polygenic
KW - Small-vessel disease
UR - http://www.scopus.com/inward/record.url?scp=84933280092&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84933280092&partnerID=8YFLogxK
U2 - 10.1016/j.jstrokecerebrovasdis.2014.10.019
DO - 10.1016/j.jstrokecerebrovasdis.2014.10.019
M3 - Article
C2 - 25727672
AN - SCOPUS:84933280092
VL - 24
SP - 759
EP - 765
JO - Journal of Stroke and Cerebrovascular Diseases
JF - Journal of Stroke and Cerebrovascular Diseases
SN - 1052-3057
IS - 4
ER -