https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:38721 Wed 19 Jan 2022 09:36:02 AEDT ]]> Prediction of breast cancer risk based on profiling with common genetic variants https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:28423 Wed 11 Apr 2018 14:49:25 AEST ]]> Estimating effect sizes and expected replication probabilities from GWAS summary statistics https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:29038 Wed 11 Apr 2018 14:13:00 AEST ]]> How to use an article about genetic association. A: background concepts https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:7491 Sat 24 Mar 2018 08:37:45 AEDT ]]> A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:7144 Sat 24 Mar 2018 08:34:14 AEDT ]]> Identification and interrogation of highly informative single nucleotide polymorphism sets defined by bacterial multilocus sequence typing databases https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:1796 Sat 24 Mar 2018 08:27:30 AEDT ]]> GGN1 in the testis and ovary and its variance within the Australian fertile and infertile male population https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:15274 Sat 24 Mar 2018 08:24:12 AEDT ]]> Genome-wide association study of kidney function decline in individuals of European descent. https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:17347 Sat 24 Mar 2018 08:01:42 AEDT ]]> GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:27911 −8) at 6p22.3 (rs1740828; P = 2.29 x 10−8, OR = 1.20), providing evidence of an additional region of interest for genetic susceptibility to endometrial cancer.]]> Sat 24 Mar 2018 07:24:36 AEDT ]]> Factor V Leiden is associated with pre-eclampsia but not with fetal growth restriction: a genetic association study and meta-analysis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:4787 Sat 24 Mar 2018 07:20:44 AEDT ]]> Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (M541L) in the transmembrane domain of c-KIT https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:4827 Sat 24 Mar 2018 07:18:53 AEDT ]]> Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:22288 Sat 24 Mar 2018 07:17:30 AEDT ]]> The effect of a muscarinic receptor 1 gene variant on grey matter volume in schizophrenia https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:22690 A single nucleotide polymorphism (rs2067477) within the cholinergic muscarinic M1 receptor (CHRM1) perform less well on the Wisconsin Card Sorting Test (WCST) than those who are heterozygous. This study sought to determine whether variation in the rs2067477 genotype was associated with differential changes in brain structure. Data from 227 patients with established schizophrenia or schizoaffective disorder were obtained from the Australian Schizophrenia Research Bank. Whole-brain voxel-based morphometry was performed to compare regional grey matter volume (GMV) between the 267C/C (N=191) and 267C/A (N=36) groups. Secondary analyses tested for an effect of genotype on cognition (the WCST was not available). Individuals who were homozygous (267C/C) demonstrated significantly reduced GMV in the right precentral gyrus compared to those who were heterozygous (267C/A). These preliminary results suggest that the rs2067477 genotype is associated with brain structure in the right precentral gyrus in individuals with schizophrenia/schizoaffective disorder. Future studies are required to replicate these results and directly link the volumetric reductions with specific cognitive processes.]]> Sat 24 Mar 2018 07:11:11 AEDT ]]> Intronic TP53 polymorphisms are associated with increased Δ133TP53 transcript, immune infiltration and cancer risk https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:40395 TP53 SNPs in exon 4 and intron 4 on cancer risk, clinicopathological features and expression of TP53 isoforms. The intron 4 SNPs were significantly over-represented in cohorts of mixed cancers compared to three ethnically matched controls, suggesting they confer increased cancer risk. Further analysis showed that heterozygosity at rs1042522(GC) and either of the two intronic SNPs rs9895829(TC) and rs2909430(AG) confer a 2.34-5.35-fold greater risk of developing cancer. These SNP combinations were found to be associated with shorter patient survival for glioblastoma and prostate cancer. Additionally, these SNPs were associated with tumor-promoting inflammation as evidenced by high levels of infiltrating immune cells and expression of the Δ133TP53 and TP53ß transcripts. We propose that these SNP combinations allow increased expression of the Δ133p53 isoforms to promote the recruitment of immune cells that create an immunosuppressive environment leading to cancer progression.]]> Mon 25 Jul 2022 09:15:39 AEST ]]>