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Genome-wide association meta-analysis of functional outcome after ischemic stroke
Neurology
|February 24, 2019
Summary
This genome-wide association study identified a genetic variant linked to functional outcomes after ischemic stroke. Further research is needed to confirm these findings and explore their mechanisms for stroke recovery.
Area of Science:
- Genetics
- Neurology
- Stroke Research
Background:
- Post-stroke functional outcomes significantly impact patient recovery and quality of life.
- Identifying genetic factors influencing stroke outcomes can lead to personalized treatment strategies.
- Genome-wide association studies (GWAS) are powerful tools for discovering genetic variants associated with complex traits.
Purpose of the Study:
- To identify common genetic variants associated with functional outcomes following ischemic stroke.
- To leverage a large international cohort within the Genetics of Ischaemic Stroke Functional Outcome (GISCOME) network.
- To perform meta-analyses of GWAS data to increase statistical power.
Main Methods:
- The study included 6,165 ischemic stroke patients from 12 international studies.
- Functional outcome was assessed using the modified Rankin Scale (mRS) at 60-190 days post-stroke.
- Genome-wide association analyses were conducted, with results meta-analyzed and adjusted for covariates. A significance threshold of p < 5 × 10⁻⁸ was used.
Main Results:
- One genetic variant (rs1842681) in the LOC105372028 gene showed genome-wide significant association with functional outcome (mRS 0-2 vs 3-6, p = 5.3 × 10⁻⁹).
- This variant is a trans-expression quantitative trait locus for PPP1R21, a gene involved in protein phosphatase 1, which plays a role in brain functions.
- Several other variants showed suggestive associations (p < 10⁻⁵) with genes like NTN4, TEK, and PTCH1, which have known roles in stroke volume and brain recovery.
Conclusions:
- This large GWAS identified a significant genetic variant and suggestive variants associated with functional recovery after ischemic stroke.
- The identified variant rs1842681 and its link to PPP1R21 offer potential mechanistic insights into post-stroke recovery.
- Further studies are warranted to replicate these findings and elucidate the functional roles of the identified genetic variants in stroke outcomes.
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