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 ]]> Mendelian randomization analysis does not support causal associations of birth weight with hypertension risk and blood pressure in adulthood https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:41782  0.05). Our findings suggest that the inverse association of birthweight with hypertension risk from observational studies was not supported by large Mendelian randomization analyses.]]> Wed 22 Mar 2023 14:30:25 AEDT ]]> Genome-wide association study identifies 74 loci associated with educational attainment https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:33716 Wed 12 Dec 2018 14:03:45 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 ]]> Comparison of HapMap and 1000 genomes reference panels in a large-scale genome-wide association study https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:30590 Tue 20 Aug 2024 12:05:56 AEST ]]> Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:44342 Tue 11 Oct 2022 19:28:24 AEDT ]]> Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:45201 P = 3.96 x 10-14). Analysis of 15,588 mother-child pairs shows that the association is driven by fetal rather than maternal genotype. Functional experiments show that the lead SNP, rs7594852, alters the binding of the HIC1 transcriptional repressor. Genes at the locus include several interleukin 1 family members with roles in pro-inflammatory pathways that are central to the process of parturition. Further understanding of the underlying mechanisms will be of great public health importance, since giving birth either before or after the window of term gestation is associated with increased morbidity and mortality.]]> Thu 27 Oct 2022 15:06:39 AEDT ]]> Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:35094 Thu 20 Jun 2019 15:56:20 AEST ]]> Genome-wide analyses of vocabulary size in infancy and toddlerhood: Associations with Attention-Deficit/Hyperactivity Disorder, literacy, and cognition-related traits https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:56072 Mon 29 Jul 2024 15:31:10 AEST ]]> Interaction between filaggrin mutations and neonatal cat exposure in atopic dermatitis https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:40140 Mon 25 Jul 2022 09:00:17 AEST ]]> A Genome-Wide Association Study of Total Child Psychiatric Problems Scores https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:50392 0.49), but not with autism or the less common adult disorders (schizophrenia, bipolar disorder, or eating disorders) (rG < 0.01). Importantly, the total psychiatric problem score also showed at least a moderate genetic correlation with intelligence, educational attainment, wellbeing, smoking, and body fat (rG > 0.29). The results suggest that many common genetic variants are associated with childhood psychiatric symptoms and related phenotypes in general instead of with specific symptoms. Further research is needed to establish causality and pleiotropic mechanisms between related traits.]]> Mon 13 May 2024 11:16:33 AEST ]]> Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:41815 Fri 12 Aug 2022 12:45:25 AEST ]]> A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:46943 METTL15). The variant was nominally associated with only the European subgroup analysis but had a consistent direction of effect in other ethnicities. We then utilized trans-ancestral Bayesian analysis to narrow down the location of the probable causal variant at each genome-wide significant signal. Of all the fine-mapped loci, we were able to narrow down the causative variant at four known loci to fewer than 10 single nucleotide polymorphisms (SNPs) (FAIM2, GNPDA2, MC4R and SEC16B loci). In conclusion, an ethnically diverse setting has enabled us to both identify an additional pediatric obesity locus and further fine-map existing loci.]]> Fri 09 Dec 2022 14:01:32 AEDT ]]>