Appunni Sandeep, Rubens Muni, Ramamoorthy Venkataraghavan, Saxena Anshul, McGranaghan Peter, Veledar Emir
Government Medical College, Kozhikode 673008, India.
Baptist Health South Florida, Miami, FL 33176, USA.
Brain Sci. 2022 Feb 23;12(3):302. doi: 10.3390/brainsci12030302.
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.
中风的病理生理学涉及许多复杂的途径和风险因素。尽管目前有多项关于中风的研究正在进行,但治疗选择有限,且中风的患病率持续上升。了解与中风相关的基因组变异和生物学途径,可能会在药物靶点和受体调节方面为新的治疗方法提供新的治疗选择。识别单个基因中的个体致病突变具有挑战性,因为许多等位基因会产生微小影响。因此,使用单核苷酸多态性(SNP)进行多因素分析,可通过识别潜在的遗传风险因素来获得新的见解。有许多研究,如全基因组关联研究(GWAS)和全表型组关联研究(PheWAS),已经确定了许多与中风相关的独立基因座,这可能有助于开发新的药物靶点和新疗法。此外,使用荟萃分析和孟德尔随机化等分析技术,有助于评估中风风险因素并确定治疗优先级。将SNP纳入多基因风险评分和生活方式风险因素中,可以在非常年轻时检测中风风险,并有助于实施预防干预措施。