Journal article

Cerebral small vessel disease genomics and its implications across the lifespan

Muralidharan Sargurupremraj, Hideaki Suzuki, Xueqiu Jian, Chloe Sarnowski, Tavia E Evans, Joshua C Bis, Gudny Eiriksdottir, Saori Sakaue, Natalie Terzikhan, Mohamad Habes, Wei Zhao, Nicola J Armstrong, Edith Hofer, Lisa R Yanek, Saskia P Hagenaars, Rajan B Kumar, Erik B van den Akker, Rebekah E McWhirter, Stella Trompet, Aniket Mishra Show all

Nature Communications | NATURE RESEARCH | Published : 2020


White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter integrity (p = 2.5×10-7) in brain images from 1,738 young healthy adults, providing insight into the lifetime impact of SVD genetic risk. Mendelian randomization suggested causal association of increasing WMH-volume with stroke, Alzheimer-type dementia, and of increasing blood pressure (BP) with larger WMH-volum..

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University of Melbourne Researchers