https://novaprd-lb.newcastle.edu.au/vital/access/manager/Index en-au 5 https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:29536 Wed 11 Apr 2018 15:45:41 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:18827 Wed 11 Apr 2018 13:01:16 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:27705 0.9 between SNPs). Although SNPs associated with deep intracerebral hemorrhage did not reach our significance threshold for association with lacunar ischemic stroke (lead SNP OR 1.10, 95% CI 1.03-1.18, p = 0.0073), and with white matter hyperintensity volume in symptomatic ischemic stroke patients (lead SNP OR 1.07, 95% CI 1.01-1.13, p = 0.016), the direction of association was the same. There was no convincing evidence of association with white matter hyperintensities in population-based studies or with non-small vessel disease cerebrovascular phenotypes. Conclusions: Our results indicate an association between common variation in the COL4A2 gene and symptomatic small vessel disease, particularly deep intracerebral hemorrhage. These findings merit replication studies, including in ethnic groups of non-European ancestry.]]> Tue 21 Jul 2020 09:43:56 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:41379 Tue 04 Apr 2023 19:08:51 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:9951 Sat 24 Mar 2018 08:14:28 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:21233 P < 5 × 10⁻⁸) with FVC in or near EFEMP1, BMP6, MIR129-2–HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and the pathogenesis of restrictive lung disease.]]> Sat 24 Mar 2018 07:53:01 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:27385 -6) was sought in 10,617 participants of European descent, 3811 African-Americans, and 1561 young adults. Results: rs4420638, near APOE, was associated with poorer delayed recall performance in discovery (p = 5.57 x 10^-10) and replication cohorts (p = 5.65 x 10^-8). This association was stronger for paragraph than word list delayed recall and in the oldest persons. Two associations with specific tests, in subsets of the total sample, reached genome-wide significance in combined analyses of discovery and replication (rs11074779 [HS3ST4], p = 3.11 x 10^-8, and rs6813517 [SPOCK3], p = 2.58 x 10^-8) near genes involved in immune response. A genetic score combining 58 independent suggestive memory risk variants was associated with increasing Alzheimer disease pathology in 725 autopsy samples. Association of memory risk loci with gene expression in 138 human hippocampus samples showed cis-associations with WDR48 and CLDN5, both related to ubiquitin metabolism. Conclusions: This largest study to date exploring the genetics of memory function in ~40,000 older individuals revealed genome-wide associations and suggested an involvement of immune and ubiquitin pathways.]]> Sat 24 Mar 2018 07:34:11 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:28443 Sat 24 Mar 2018 07:29:00 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:47296 Fri 13 Jan 2023 10:45:52 AEDT ]]>