Research Spotlight

Ethnic and region-specific genetic risk variants of stroke and its comorbid conditions can define the variations in the burden of stroke and its phenotypic traits

eLife   |July 10, 2024 | doi.org/10.7554/eLife.94088.2

Rashmi Sukumaran , Achuthsankar S. Nair, Moinak Banerjee

ABSTRACT

Burden of stroke differs by region, which could be attributed to differences in comorbid conditions and ethnicity. Genomewide variation acts as a proxy marker for ethnicity, and comorbid conditions. We present an integrated approach to understand this variation by considering prevalence and mortality rates of stroke and its comorbid risk for 204 countries from 2009 to 2019, and GWAS risk variant for all these conditions. Global and regional trend analysis of rates using linear regression, correlation and proportion analysis, signify ethnogeographic differences. Interestingly, the comorbid conditions that act as risk drivers for stroke differed by regions, with more of metabolic risk in America and Europe, in contrast to high SBP in Asian and African regions. GWAS risk loci of stroke and its comorbid conditions indicate distinct population stratification for each of these conditions, signifying for population specific risk. Unique and shared genetic risk variants for stroke, and its comorbid and followed up with ethnic specific variation can help in determining regional risk drivers for stroke. Unique ethnic specific risk variants and their distinct patterns of Linkage Disequilibrium further uncover the drivers for phenotypic variation. Therefore, identifying population and comorbidity specific risk variants might help in defining the threshold for risk, and aid in developing population specific prevention strategies for stroke.