Genetic risk of Spontaneous intracerebral hemorrhage: Systematic review and future directions

JOURNAL OF THE NEUROLOGICAL SCIENCES

卷:407

Review

Wahab, Kolawole Wasiu¹  Tiwari, Hemant K.²  Ovbiagele, Bruce³  Sarfo, Fred⁴  Akinyemi, Rufus^5,8  Traylor, Matthew⁶  Rotimi, Charles⁷  Markus, Hugh Stephen⁶  Owolabi, Mayowa^5,8 

[1] Univ Ilorin, Coll Hlth Sci, Dept Med, Ilorin, Nigeria

[2] Univ Alabama Birmingham, Dept Biostat, Birmingham, AL 35294 USA

[3] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA

[4] Kwame Nkrwnah Univ Sci & Technol, Kumasi, Ghana

[5] Univ Ibadan, Coll Med, Ctr Genom & Precis Med, Ibadan, Nigeria

[6] Univ Cambridge, Cambridge, England

[7] NHGRI, Ctr Res Genom & Global Hlth, NIH, Bethesda, MD 20892 USA

[8] Univ Ibadan, Dept Med, Ibadan, Nigeria

关键词: Spontaneous intracerebral hemorrhage;    Stroke;    Africans;    Trans-omics;    Genetics;   

DOI  :  10.1016/j.jns.2019.116526

来源: Elsevier

【 摘 要 】

Background: Although highly heritable, few genes have been linked to spontaneous intracerebral hemorrhage (SIGH), which does not currently have any evidence-based disease-modifying therapy. Individuals of African ancestry are especially susceptible to SICH, even more so for indigenous Africans. We systematically reviewed the genetic variants associated with SICH and examined opportunities for rapidly advancing SICH genomic research for precision medicine. Method: We searched the National Human Genome Research Institute-European Bioinformatics Institute (NHGRI-EBI) Genome Wide Association Study (GWAS) catalog and PubMed for original research articles on genetic variants associated with SICH as of 15 June 2019 using the PRISMA guideline. Results: Eight hundred and sixty-four articles were identified using pre-specified search criteria, of which 64 met the study inclusion criteria. Among eligible articles, only 9 utilized GWAS approach while the rest were candidate gene studies. Thirty-eight genetic loci were found to be variously associated with the risk of SICH, hematoma volume, functional outcome and mortality, out of which 8 were from GWAS including APOE, CR1, KCNK17, 1q22, CETP, STYKI, COL4A2 and 17p12. None of the studies included indigenous Africans. Conclusion: Given this limited information on the genetic contributors to SICH, more genomic studies are needed to provide additional insights into the pathophysiology of SICH, and develop targeted preventive and therapeutic strategies. This call for additional investigation of the pathogenesis of SICH is likely to yield more discoveries in the unexplored indigenous African populations which also have a greater predilection.

【 授权许可】

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