https://nova.newcastle.edu.au/vital/access/ /manager/Index en-au 5 Genetic variation at 16q24.2 is associated with small vessel stroke https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:33544 -9). The lead single-nucleotide polymorphism (rs12445022) was also associated with cerebral white matter hyperintensities (OR [95% CI] = 1.10 [1.05-1.16] ; p = 5.3 × 10-5 ; N = 3,670), but not intracerebral hemorrhage (OR [95% CI] = 0.97 [0.84-1.12] ; p = 0.71; 1,545 cases, 1,481 controls). rs12445022 is associated with mRNA expression of ZCCHC14 in arterial tissues (p = 9.4 × 10-7) and DNA methylation at probe cg16596957 in whole blood (p = 5.3 × 10-6). Interpretation: 16q24.2 is associated with SVS. Associations of the locus with expression of ZCCHC14 and DNA methylation suggest the locus acts through changes to regulatory elements.]]> Wed 15 Dec 2021 16:10:00 AEDT ]]> Low-frequency and common genetic variation in ischemic stroke: the METASTROKE collaboration https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:25883 Sat 24 Mar 2018 07:25:54 AEDT ]]> Genetic imbalance is associated with functional outcome after Ischemic Stroke https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:42223 P=0.0007; odds ratio=0.89; 95% CI, 0.82–0.95 and SiGN/GISCOME: P=0.0036; odds ratio=0.94; 95% CI, 0.91–0.98). The association was independent of age, sex, stroke severity on admission, stroke subtype, and ancestry. On subgroup analysis, imbalance affecting ohnologs was associated with outcome (CADISP: odds ratio=0.88; 95% CI, 0.80–0.95 and SiGN/GISCOME: odds ratio=0.93; 95% CI, 0.89–0.98) whereas imbalance without ohnologs lacked such an association. Conclusions: Increased genetic imbalance was associated with poorer functional outcome after IS in both study populations. Subgroup analysis revealed that this association was driven by presence of ohnologs in the respective copy number variations, suggesting a causal role of the deleterious effects of genetic imbalance.]]> Fri 26 Aug 2022 09:34:08 AEST ]]>