Abstract
Purpose of review Cerebrovascular disease (CeVD) remains a major cause of death and a leading cause of disability worldwide. CeVD is a complex and multifactorial disease caused by the interaction of vascular risk factors, environment, and genetic factors. In the present article, we discussed genetic susceptibility to CeVD, with particular emphasis on genetic studies of the associations between lipid traits and CeVD. Recent findings Several animal and clinical studies clearly defined genetic predisposition to atherosclerosis and CeVD, and particularly to ischemic stroke. Recent evidence has shown that traditional vascular risk factors explain only a small proportion of variance in atherosclerosis, suggesting that additional nontraditional factors and novel genetic determinants impact CeVD. With the help of genome-wide technology, novel genetic variants have been implicated in CeVD and lipid metabolism such as those in protein convertase subtilisin/kexin type 9 (PCSK9) gene in stroke and familial hypercholesterolemia. These studies are important as they contribute to our understanding of the genetic mechanisms underlying CeVD and to developing more effective CeVD prevention strategies. Summary CeVD is a complex and multifactorial disease and genetics likely plays an important role in its pathogenesis. The gene-gene and gene-environment interactions of genes involved in biology of vascular disease, including the lipid metabolism are important factors for individual susceptibility to CeVD. Accounting for individual variation in genes, environment and lifestyle will bring us closer to precision medicine, which is an emerging and recently introduced new approach for disease treatment and prevention in clinical practice.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 187-195 |
| Number of pages | 9 |
| Journal | Current Opinion in Lipidology |
| Volume | 27 |
| Issue number | 2 |
| DOIs | |
| State | Published - Apr 1 2016 |
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Keywords
- cerebrovascular disease
- familial hypercholesterolemia
- genetics
- Keywords apolipoproteins
- lipids
- monogenic diseases
ASJC Scopus subject areas
- Cell Biology
- Genetics
- Molecular Biology
- Cardiology and Cardiovascular Medicine
- Endocrinology, Diabetes and Metabolism
- Nutrition and Dietetics
Cite this
Genetic susceptibility to cerebrovascular disease. / Della Morte, David; Pacifici, Francesca; Rundek, Tatjana.
In: Current Opinion in Lipidology, Vol. 27, No. 2, 01.04.2016, p. 187-195.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Genetic susceptibility to cerebrovascular disease
AU - Della Morte, David
AU - Pacifici, Francesca
AU - Rundek, Tatjana
PY - 2016/4/1
Y1 - 2016/4/1
N2 - Purpose of review Cerebrovascular disease (CeVD) remains a major cause of death and a leading cause of disability worldwide. CeVD is a complex and multifactorial disease caused by the interaction of vascular risk factors, environment, and genetic factors. In the present article, we discussed genetic susceptibility to CeVD, with particular emphasis on genetic studies of the associations between lipid traits and CeVD. Recent findings Several animal and clinical studies clearly defined genetic predisposition to atherosclerosis and CeVD, and particularly to ischemic stroke. Recent evidence has shown that traditional vascular risk factors explain only a small proportion of variance in atherosclerosis, suggesting that additional nontraditional factors and novel genetic determinants impact CeVD. With the help of genome-wide technology, novel genetic variants have been implicated in CeVD and lipid metabolism such as those in protein convertase subtilisin/kexin type 9 (PCSK9) gene in stroke and familial hypercholesterolemia. These studies are important as they contribute to our understanding of the genetic mechanisms underlying CeVD and to developing more effective CeVD prevention strategies. Summary CeVD is a complex and multifactorial disease and genetics likely plays an important role in its pathogenesis. The gene-gene and gene-environment interactions of genes involved in biology of vascular disease, including the lipid metabolism are important factors for individual susceptibility to CeVD. Accounting for individual variation in genes, environment and lifestyle will bring us closer to precision medicine, which is an emerging and recently introduced new approach for disease treatment and prevention in clinical practice.
AB - Purpose of review Cerebrovascular disease (CeVD) remains a major cause of death and a leading cause of disability worldwide. CeVD is a complex and multifactorial disease caused by the interaction of vascular risk factors, environment, and genetic factors. In the present article, we discussed genetic susceptibility to CeVD, with particular emphasis on genetic studies of the associations between lipid traits and CeVD. Recent findings Several animal and clinical studies clearly defined genetic predisposition to atherosclerosis and CeVD, and particularly to ischemic stroke. Recent evidence has shown that traditional vascular risk factors explain only a small proportion of variance in atherosclerosis, suggesting that additional nontraditional factors and novel genetic determinants impact CeVD. With the help of genome-wide technology, novel genetic variants have been implicated in CeVD and lipid metabolism such as those in protein convertase subtilisin/kexin type 9 (PCSK9) gene in stroke and familial hypercholesterolemia. These studies are important as they contribute to our understanding of the genetic mechanisms underlying CeVD and to developing more effective CeVD prevention strategies. Summary CeVD is a complex and multifactorial disease and genetics likely plays an important role in its pathogenesis. The gene-gene and gene-environment interactions of genes involved in biology of vascular disease, including the lipid metabolism are important factors for individual susceptibility to CeVD. Accounting for individual variation in genes, environment and lifestyle will bring us closer to precision medicine, which is an emerging and recently introduced new approach for disease treatment and prevention in clinical practice.
KW - cerebrovascular disease
KW - familial hypercholesterolemia
KW - genetics
KW - Keywords apolipoproteins
KW - lipids
KW - monogenic diseases
UR - http://www.scopus.com/inward/record.url?scp=84960369032&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84960369032&partnerID=8YFLogxK
U2 - 10.1097/MOL.0000000000000275
DO - 10.1097/MOL.0000000000000275
M3 - Article
C2 - 26959706
AN - SCOPUS:84960369032
VL - 27
SP - 187
EP - 195
JO - Current Opinion in Lipidology
JF - Current Opinion in Lipidology
SN - 0957-9672
IS - 2
ER -