APOL1, CDKN2A/CDKN2B, and HDAC9 polymorphisms and small vessel ischemic stroke
R Akinyemi1,2, H K Tiwari3, D K Arnett4
1Center for Genomic and Precision Medicine, University of Ibadan, Ibadan, Nigeria.
Acta Neurologica Scandinavica
|October 5, 2017
Summary
This study links APOL1 gene variants to small vessel disease ischemic stroke in West Africans. These findings highlight the genetic factors contributing to stroke in this population.
Area of Science:
- Genetics
- Neurology
- Epidemiology
Background:
- Small vessel disease (SVD) ischemic stroke is prevalent in indigenous West Africans.
- APOL1 gene variants are common in this population and linked to kidney disease.
- Understanding stroke genetics in diverse ancestries is crucial for global health.
Purpose of the Study:
- To investigate the association between specific genetic variants, including APOL1 G1, and SVD ischemic stroke.
- To determine the effect sizes of these genetic associations in indigenous West African participants.
- To contribute to the understanding of stroke genetics in African populations.
Main Methods:
- Case-control study design using neuroimaging-confirmed stroke cases and stroke-free controls.
- Logistic regression models adjusted for vascular risk factors were employed.
- Analysis included 23 single nucleotide polymorphisms (SNPs) in 14 relevant genes.
Main Results:
- APOL1 (rs73885319) showed a significant association with SVD stroke (OR=1.52, P=0.013).
- SNPs in HDAC9 (rs2107595, rs28688791) and CDKN2A/CDKN2B (rs2383207) were also associated with SVD stroke.
- No significant associations were found for polymorphisms in other investigated genes.
Conclusions:
- This study provides the first evidence of a specific association between APOL1 variants and SVD ischemic stroke.
- Further research is warranted to validate these findings and explore the genetic basis of stroke in African ancestries.
- Understanding these genetic links may have broader implications for stroke research across diverse populations.
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