https://nova.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Low-frequency variation in TP53 has large effects on head circumference and intracranial volume https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:45073 TP53, with 0.5 cm wider heads in increaser-allele carriers versus non-carriers during mid-childhood, suggesting a previously unrecognized role of TP53 transcripts in human cranial development.]]> Wed 26 Oct 2022 11:49:10 AEDT ]]> Genome-wide analysis identifies 12 loci influencing human reproductive behavior https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:29536 Wed 11 Apr 2018 15:45:41 AEST ]]> Genome-wide association and functional follow-up reveals new loci for kidney function https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:15141 Wed 11 Apr 2018 13:54:12 AEST ]]> Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:44364 Tue 21 Mar 2023 17:38:16 AEDT ]]> Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:46991 Tue 04 Apr 2023 19:29:34 AEST ]]> Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:13258 Sat 24 Mar 2018 08:15:59 AEDT ]]> Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:20501 Sat 24 Mar 2018 07:59:03 AEDT ]]> Genome-wide association analysis identifies six new loci associated with forced vital capacity https://nova.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 ]]> Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:32383 20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r =-0.62, P = 5.30 × 10 -5 ) but not between CCT and primary open-angle glaucoma (r =-0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation.]]> Mon 23 Sep 2019 12:09:41 AEST ]]> Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:30005 Mon 17 Oct 2022 12:06:14 AEDT ]]> Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:46970 Mon 12 Dec 2022 16:19:30 AEDT ]]>