MRI-visible dilated perivascular spaces in healthy young adults: A twin heritability study

Hum Brain Mapp. 2020 Dec 15;41(18):5313-5324. doi: 10.1002/hbm.25194. Epub 2020 Sep 8.


We investigated the narrow-sense heritability of MRI-visible dilated perivascular spaces (dPVS) in healthy young adult twins and nontwin siblings (138 monozygotic, 79 dizygotic twin pairs, and 133 nontwin sibling pairs; 28.7 ± 3.6 years) from the Human Connectome Project. dPVS volumes within basal ganglia (BGdPVS) and white matter (WMdPVS) were automatically calculated on three-dimensional T2-weighted MRI. In univariate analysis, heritability estimates of BGdPVS and WMdPVS after age and sex adjustment were 65.8% and 90.2%. In bivariate analysis, both BGdPVS and WMdPVS showed low to moderate genetic correlations (.30-.43) but high shared heritabilities (71.8-99.9%) with corresponding regional volumes, intracranial volumes, and other regional dPVS volumes. Older age was significantly associated with larger dPVS volume in both regions even after adjusting for clinical and volumetric variables, while blood pressure was not associated with dPVS volume although there was weak genetic correlation. dPVS volume, particularly WMdPVS, was highly heritable in healthy young adults, adding evidence of a substantial genetic contribution in dPVS development and differential effect by location. Age affects dPVS volume even in young adults, while blood pressure might have limited role in dPVS development in its normal range.

Keywords: MRI; convolutional neural network; heritability; perivascular spaces; twin study.