Rare Coding Variation and Risk of Intracerebral Hemorrhage

Farid Radmanesh, Guido J. Falcone, Christopher D. Anderson, David McWilliams, William J. Devan, W. Mark Brown, Thomas W.K. Battey, Alison M. Ayres, Miriam R. Raffeld, Kristin Schwab, Guangyun Sun, Ranjan Deka, Anand Viswanathan, Joshua N. Goldstein, Steven M. Greenberg, David L. Tirschwell, Scott L. Silliman, Magdy Selim, James F. Meschia, Devin L. BrownBradford B. Worrall, Carl D. Langefeld, Daniel Woo, Jonathan Rosand

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


BACKGROUND AND PURPOSE: Intracerebral hemorrhage has a substantial genetic component. We performed a preliminary search for rare coding variants associated with intracerebral hemorrhage.

METHODS: A total of 757 cases and 795 controls were genotyped using the Illumina HumanExome Beadchip (Illumina, Inc, San Diego, CA). Meta-analyses of single-variant and gene-based association were computed.

RESULTS: No rare coding variants were associated with intracerebral hemorrhage. Three common variants on chromosome 19q13 at an established susceptibility locus, encompassing TOMM40, APOE, and APOC1, met genome-wide significance (P<5e-08). After adjusting for the APOE epsilon alleles, this locus was no longer convincingly associated with intracerebral hemorrhage. No gene reached genome-wide significance level in gene-based association testing.

CONCLUSIONS: Although no coding variants of large effect were detected, this study further underscores a major challenge for the study of genetic susceptibility loci; large sample sizes are required for sufficient power except for loci with large effects.

Original languageEnglish (US)
Pages (from-to)2299-2301
Number of pages3
JournalStroke; a journal of cerebral circulation
Issue number8
StatePublished - Aug 1 2015


  • apolipoproteins E
  • cerebral hemorrhage
  • genome-wide association study

ASJC Scopus subject areas

  • Clinical Neurology
  • Cardiology and Cardiovascular Medicine
  • Advanced and Specialized Nursing


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