MedicalResearch.com Interview with:
Sandro Marini, MD
Jonathan Rosand Laboratory
Massachusetts General Hospital
Boston, MA 02114
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: The epsilon(ε) 4 allele of the Apolipoprotein E (APOE) gene increases risk for Alzheimer’s disease (AD) and intracerebral hemorrhage (ICH).
In both diseases, it is believed to increase risk through the deposition of beta-amyloid within the brain and blood vessels, respectively. The effect of APOE ε4 on both AD and ICH risk changes across populations, for unclear reasons.
In our study, we confirmed the role of APOE ε4 for ICH risk in whites and found that the risk-increasing effect of the 4 allele is demonstrable in Hispanics only when balancing out the effect of hypertension.
MedicalResearch.com: What should readers take away from your report?
Response: The differential burden of hypertension is particularly important to capture in traditionally underserved populations because it can conceal the effect of other risk factors for cerebrovascular disease. Our results suggest that in intracerebral hemorrhage, there are risk factors that are highly stratified across racial and ethnic populations that can interact and effectively hide the risk exerted by genetic factors, such as APOE e4.
Our findings show that hypertension can drive a misclassification of risk factors underlying ICH, making it appear as though APOE e4 has no effect .
MedicalResearch.com: What recommendations do you have for future research as a result of this work?
Response: Human genetics have highlighted a rising number of genes and pathological pathways related to disease. Yet these results mostly come from analyses examining participants of white European ancestry. Genetic research with participants of diverse ancestries will allow the identification of new risk factors (genetic and environmental) that may uncover new strategies for treatment and prevention. Our study is an illustration of this principle.
Disclosures:I would like to thank the AHA/ASA for the fellowship granted to me (#18POST34080063), all our research collaborators across the International Stroke Genetics Consortium, and Dr. Rosand and Dr. Anderson, my outstanding mentors in the Center for Genomic Medicine at Massachusetts General Hospital.
Marini S, Crawford K, Morotti A, et al. Association of Apolipoprotein E With Intracerebral Hemorrhage Risk by Race/Ethnicity: A Meta-analysis. JAMA Neurol. Published online February 06, 2019. doi:10.1001/jamaneurol.2018.4519
Apolipoprotein E and Intracerebral Hemorrhage: A Trans-Ethnic Meta-Analysis
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