Abstrakt: |
Researchers at Massachusetts General Hospital have conducted a study to further understand the 1q22 locus, which has been identified as a susceptibility locus for cerebral small vessel diseases, including non-lobar intracerebral hemorrhage (ICH) and lacunar stroke. The study involved targeted high-depth sequencing of 1q22 in ICH cases and controls, and the analysis prioritized variants in the SEMA4A and PMF1 genes. The researchers also found evidence of long-range interactions between the SEMA4A-promoter and PMF1-enhancer regions. The study suggests that PMF1 overexpression may be causally related to non-lobar ICH risk. [Extracted from the article] |