FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4387296948> ?p ?o ?g. }

• W4387296948 abstract "Objective Genome‐wide association studies have identified 1q22 as a susceptibility locus for cerebral small vessel diseases, 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 A total of 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. Firth regression and Rare Variant Influential Filtering Tool analysis were used to analyze common and rare variants, respectively. Chromatin interaction analyses were performed using Hi‐C, chromatin immunoprecipitation followed by sequencing, and chromatin interaction analysis with paired‐end tag databases. Multivariable Mendelian randomization assessed whether alterations in gene‐specific expression relative to regionally co‐expressed genes at 1q22 could be causally related to ICH risk. Results Common and rare variant analyses prioritized variants in SEMA4A 5′‐UTR and PMF1 intronic regions, overlapping with active promoter and enhancer regions based on ENCODE annotation. Hi‐C data analysis determined that 1q22 is spatially organized in a single chromatin loop, and that the genes therein belong to the same topologically associating domain. Chromatin immunoprecipitation followed by sequencing and chromatin interaction analysis with paired‐end tag data analysis highlighted the presence of long‐range interactions between the SEMA4A ‐promoter and PMF1 ‐enhancer regions prioritized by association testing. Multivariable Mendelian randomization analyses demonstrated that PMF1 overexpression could be causally related to non‐lobar ICH risk. Interpretation Altered promoter–enhancer interactions leading to PMF1 overexpression, potentially dysregulating polyamine catabolism, could explain demonstrated associations with non‐lobar ICH risk at 1q22 , offering a potential new target for prevention of ICH and cerebral small vessel disease. ANN NEUROL 2023" @default.
• W4387296948 created "2023-10-04" @default.
• W4387296948 creator A5001592746 @default.
• W4387296948 creator A5006664647 @default.
• W4387296948 creator A5010722813 @default.
• W4387296948 creator A5014334144 @default.
• W4387296948 creator A5021756508 @default.
• W4387296948 creator A5022072512 @default.
• W4387296948 creator A5025189899 @default.
• W4387296948 creator A5030650722 @default.
• W4387296948 creator A5032836389 @default.
• W4387296948 creator A5037076906 @default.
• W4387296948 creator A5037425044 @default.
• W4387296948 creator A5044903285 @default.
• W4387296948 creator A5048136878 @default.
• W4387296948 creator A5053098139 @default.
• W4387296948 creator A5055997173 @default.
• W4387296948 creator A5056485456 @default.
• W4387296948 creator A5064334744 @default.
• W4387296948 creator A5074433419 @default.
• W4387296948 creator A5086563558 @default.
• W4387296948 creator A5087181696 @default.
• W4387296948 creator A5087867859 @default.
• W4387296948 date "2023-10-14" @default.
• W4387296948 modified "2023-10-16" @default.
• W4387296948 title "Deep resequencing of the 1q22 locus in non‐lobar intracerebral hemorrhage" @default.
• W4387296948 cites W1547594908 @default.
• W4387296948 cites W1569301647 @default.
• W4387296948 cites W1927090780 @default.
• W4387296948 cites W1973062929 @default.
• W4387296948 cites W1973817667 @default.
• W4387296948 cites W1981041672 @default.
• W4387296948 cites W1999288550 @default.
• W4387296948 cites W2003566637 @default.
• W4387296948 cites W2006234483 @default.
• W4387296948 cites W2013898117 @default.
• W4387296948 cites W2033151532 @default.
• W4387296948 cites W2040608878 @default.
• W4387296948 cites W2066447079 @default.
• W4387296948 cites W2079193866 @default.
• W4387296948 cites W2084160423 @default.
• W4387296948 cites W2090976684 @default.
• W4387296948 cites W2101505979 @default.
• W4387296948 cites W2104549677 @default.
• W4387296948 cites W2108797218 @default.
• W4387296948 cites W2116843250 @default.
• W4387296948 cites W2118775574 @default.
• W4387296948 cites W2131293296 @default.
• W4387296948 cites W2138217484 @default.
• W4387296948 cites W2143204694 @default.
• W4387296948 cites W2146780267 @default.
• W4387296948 cites W2166838767 @default.
• W4387296948 cites W2195190137 @default.
• W4387296948 cites W2259938310 @default.
• W4387296948 cites W2297334215 @default.
• W4387296948 cites W2409881721 @default.
• W4387296948 cites W2493763501 @default.
• W4387296948 cites W2716993897 @default.
• W4387296948 cites W2742117056 @default.
• W4387296948 cites W2765741842 @default.
• W4387296948 cites W2767851151 @default.
• W4387296948 cites W2912509459 @default.
• W4387296948 cites W2913876336 @default.
• W4387296948 cites W2953015363 @default.
• W4387296948 cites W2969948861 @default.
• W4387296948 cites W2981058401 @default.
• W4387296948 cites W2999009832 @default.
• W4387296948 cites W3080182863 @default.
• W4387296948 cites W3093169834 @default.
• W4387296948 cites W3189454022 @default.
• W4387296948 cites W3197364483 @default.
• W4387296948 cites W3201494672 @default.
• W4387296948 cites W4210440929 @default.
• W4387296948 cites W4230954463 @default.
• W4387296948 cites W4328053272 @default.
• W4387296948 doi "https://doi.org/10.1002/ana.26814" @default.
• W4387296948 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37787451" @default.
• W4387296948 hasPublicationYear "2023" @default.
• W4387296948 type Work @default.
• W4387296948 citedByCount "0" @default.
• W4387296948 crossrefType "journal-article" @default.
• W4387296948 hasAuthorship W4387296948A5001592746 @default.
• W4387296948 hasAuthorship W4387296948A5006664647 @default.
• W4387296948 hasAuthorship W4387296948A5010722813 @default.
• W4387296948 hasAuthorship W4387296948A5014334144 @default.
• W4387296948 hasAuthorship W4387296948A5021756508 @default.
• W4387296948 hasAuthorship W4387296948A5022072512 @default.
• W4387296948 hasAuthorship W4387296948A5025189899 @default.
• W4387296948 hasAuthorship W4387296948A5030650722 @default.
• W4387296948 hasAuthorship W4387296948A5032836389 @default.
• W4387296948 hasAuthorship W4387296948A5037076906 @default.
• W4387296948 hasAuthorship W4387296948A5037425044 @default.
• W4387296948 hasAuthorship W4387296948A5044903285 @default.
• W4387296948 hasAuthorship W4387296948A5048136878 @default.
• W4387296948 hasAuthorship W4387296948A5053098139 @default.
• W4387296948 hasAuthorship W4387296948A5055997173 @default.
• W4387296948 hasAuthorship W4387296948A5056485456 @default.
• W4387296948 hasAuthorship W4387296948A5064334744 @default.
• W4387296948 hasAuthorship W4387296948A5074433419 @default.
• W4387296948 hasAuthorship W4387296948A5086563558 @default.

• next