Livia Parodi, Mary E Comeau, Marios K Georgakis, Ernst Mayerhofer, Jaeyoon Chung, Guido J Falcone, Rainer Malik, Stacie L Demel, Bradford B Worrall, Sebastian Koch, Fernando D Testai, Steven J Kittner, Jacob L McCauley, Christiana E Hall, Douglas J Mayson, Mitchell Sv Elkind, Michael L James, Daniel Woo, Jonathan Rosand, Carl D Langefeld, Christopher D Anderson
OBJECTIVE: Genome-wide association studies have identified 1q22 as a susceptibility locus for cerebral small vessel diseases (CSVDs), including non-lobar intracerebral hemorrhage (ICH) and lacunar stroke. In the present study we performed targeted high-depth sequencing of 1q22 in ICH cases and controls to further characterize this locus and prioritize potential causal mechanisms, which remain unknown. METHODS: 95,000 base pairs spanning 1q22 , including SEMA4A, SLC25A44 and PMF1 / PMF1-BGLAP were sequenced in 1,055 spontaneous ICH cases (534 lobar and 521 non-lobar) and 1,078 controls...
April 24, 2023: medRxiv