https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 A novel MMP12 locus Is associated with large artery atherosclerotic stroke using a genome-wide age-at-onset informed approach https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:16959 -7), with independent replication in a second population (p = 0.0048, OR(95% CI) = 1.18(1.05–1.32); meta-analysis p = 2.6×10-8). The nearby gene, MMP12, was significantly over expressed in carotid plaques compared to atherosclerosis-free control arteries (p = 1.2×10-15; fold change = 335.6). Permutation analyses demonstrated improved significance for associations when accounting for age-at-onset in all four stroke phenotypes (p<0.001). Our results show that a covariate-informed design, by adjusting for age-at-onset of stroke, can detect variants not identified by conventional GWAS.]]> Wed 11 Apr 2018 17:21:31 AEST ]]> Leveraging genomic annotations and pleiotropic enrichment for improved replication rates in schizophrenia GWAS https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:26719 -8). There were 693 and 219 independent loci with model-based replication rates ≥80% and ≥90%, respectively. Compared to analyses not incorporating relative enrichment scores, CM3 increased out-of-sample yield for SNPs that replicate at a given rate. This demonstrates that replication probabilities can be more accurately estimated using prior enrichment information with CM3.]]> Wed 11 Apr 2018 17:05:48 AEST ]]> RAB-Like 2 has an essential role in male fertility, sperm intra-flagellar transport, and tail assembly https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:15139 Wed 11 Apr 2018 14:39:08 AEST ]]> RBM5 is a male germ cell splicing factor and is required for spermatid differentiation and male fertility https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:14944 Wed 11 Apr 2018 14:30:16 AEST ]]> No reliable association between runs of homozygosity and schizophrenia in a well-powered replication study https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:27630 Froh and schizophrenia (β = 4.86,CI(β) = [0.90,8.83],Z = 2.40,p = 0.02). Since Keller et al. (2012), several studies reported inconsistent association of ROH burden with complex traits, particularly in case-control data. These conflicting results might suggest that the effects of autozygosity are confounded by various factors, such as socioeconomic status, education, urbanicity, and religiosity, which may be associated with both real inbreeding and the outcome measures of interest.]]> Wed 11 Apr 2018 14:15:34 AEST ]]> Stromal liver kinase B1 STK11 signaling loss induces oviductal adenomas and endometrial cancer by activating mammalian target of Rapamycin Complex 1 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:15121 Wed 11 Apr 2018 14:09:49 AEST ]]> All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:22232 Wed 11 Apr 2018 13:37:53 AEST ]]> Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:41815 Fri 12 Aug 2022 12:45:25 AEST ]]>