Stroke Genomics: Current Knowledge, Clinical Applications and Future Possibilities

被引:7
作者
Appunni, Sandeep [1 ]
Rubens, Muni [2 ]
Ramamoorthy, Venkataraghavan [2 ]
Saxena, Anshul [2 ]
McGranaghan, Peter [2 ,3 ,4 ,5 ]
Veledar, Emir [3 ,4 ,5 ]
机构
[1] Govt Med Coll, Kozhikode 673008, India
[2] Baptist Hlth South Florida, Miami, FL 33176 USA
[3] Charite Univ Med Berlin, Dept Internal Med & Cardiol, D-10117 Berlin, Germany
[4] Free Univ Berlin, D-10117 Berlin, Germany
[5] Humboldt Univ, D-10117 Berlin, Germany
关键词
stroke; genomics; Mendelian inheritance; GWAS; PheWAS; AUTOSOMAL-DOMINANT ARTERIOPATHY; MICROVASCULAR ENDOTHELIAL-CELLS; NONCODING RNA MALAT1; ISCHEMIC-STROKE; MYOCARDIAL-INFARCTION; CONFERS RISK; WHOLE-GENOME; SUBCORTICAL INFARCTS; ATRIAL-FIBRILLATION; WIDE ASSOCIATION;
D O I
10.3390/brainsci12030302
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
The pathophysiology of stoke involves many complex pathways and risk factors. Though there are several ongoing studies on stroke, treatment options are limited, and the prevalence of stroke is continuing to increase. Understanding the genomic variants and biological pathways associated with stroke could offer novel therapeutic alternatives in terms of drug targets and receptor modulations for newer treatment methods. It is challenging to identify individual causative mutations in a single gene because many alleles are responsible for minor effects. Therefore, multiple factorial analyses using single nucleotide polymorphisms (SNPs) could be used to gain new insight by identifying potential genetic risk factors. There are many studies, such as Genome-Wide Association Studies (GWAS) and Phenome-Wide Association Studies (PheWAS) which have identified numerous independent loci associated with stroke, which could be instrumental in developing newer drug targets and novel therapies. Additionally, using analytical techniques, such as meta-analysis and Mendelian randomization could help in evaluating stroke risk factors and determining treatment priorities. Combining SNPs into polygenic risk scores and lifestyle risk factors could detect stroke risk at a very young age and help in administering preventive interventions.
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页数:14
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