https://nova.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:48511 n = 321,223) and offspring birth weight (n = 230,069 mothers), we identified 190 independent association signals (129 of which are novel). We used structural equation modeling to decompose the contributions of direct fetal and indirect maternal genetic effects, then applied Mendelian randomization to illuminate causal pathways. For example, both indirect maternal and direct fetal genetic effects drive the observational relationship between lower birth weight and higher later blood pressure: maternal blood pressure-raising alleles reduce offspring birth weight, but only direct fetal effects of these alleles, once inherited, increase later offspring blood pressure. Using maternal birth weight-lowering genotypes to proxy for an adverse intrauterine environment provided no evidence that it causally raises offspring blood pressure, indicating that the inverse birth weight-blood pressure association is attributable to genetic effects, and not to intrauterine programming.]]> Wed 22 Mar 2023 15:25:15 AEDT ]]> Genetic effects on the timing of parturition and links to fetal birth weight https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:52463 Wed 11 Oct 2023 15:07:44 AEDT ]]> 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 ]]> 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 ]]> Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:42033 Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.]]> Mon 22 Aug 2022 10:16:20 AEST ]]> The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia: design, results and future prospects https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:49398 Fri 30 Jun 2023 10:10:23 AEST ]]>