Burden of dilated perivascular spaces, an emerging marker of cerebral small vessel disease, is highly heritable

Marie Gabrielle Duperron, Christophe Tzourio, Muralidharan Sargurupremraj, Bernard Mazoyer, Aïcha Soumaré, Sabrina Schilling, Philippe Amouyel, Ganesh Chauhan, Yi Cheng Zhu, Stéphanie Debette

Research output: Contribution to journalArticlepeer-review

60 Scopus citations


Background and Purpose - The genetic contribution to dilated perivascular space (dPVS) burden - an emerging MRI marker of cerebral small vessel disease - is unknown. We measured the heritability of dPVS burden and its shared heritability with other MRI markers of cerebral small vessel disease. Methods - The study sample comprised 1597 participants from the population-based Three City (3C) Dijon Study, with brain MRI and genome-wide genotyping (mean age, 72.8±4.1 years; 61% women). dPVS burden and lacunar brain infarcts were rated on a semiquantitative scale, whereas an automated algorithm generated white matter hyperintensity volume (WMHV). We estimated dPVS burden heritability and shared heritability with WMHV and lacunar brain infarcts using the genome-wide complex trait analysis tool, on unrelated participants, adjusting for age, sex, intracranial volume, and principal components of population stratification. Results - dPVS burden was significantly correlated with WMHV and lacunar brain infarcts, the strongest correlation being found between WMHV and dPVS in basal ganglia. Heritability estimates were h2=0.59±0.24 (P=0.007) for dPVS burden, h2=0.54±0.24 (P=0.010) for WMHV, and h2=0.48±0.81 (P=0.278) for lacunar brain infarcts. We found a nonsignificant trend toward shared heritability between dPVS and WMHV (rg=0.41±0.28; P=0.096), which seemed driven by dPVS in basal ganglia (rg=0.72±0.61; P=0.126) and not dPVS in white matter (rg=-0.10±0.36; P=0.393). A genetic risk score for WMHV based on published loci was associated with increased dPVS burden in basal ganglia (P=0.031). Conclusions - We provide evidence for important genetic contribution to dPVS burden in older community-dwelling people, some of which may be shared with WMHV. Differential heritability patterns for dPVS in white matter and basal ganglia suggest at least partly distinct underlying biological processes.

Original languageEnglish (US)
Pages (from-to)282-287
Number of pages6
Issue number2
StatePublished - 2018


  • Brain
  • Cerebral small vessel diseases
  • Humans
  • Leukoaraiosis
  • Magnetic resonance imaging

ASJC Scopus subject areas

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


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