https://nova.newcastle.edu.au/vital/access/ /manager/Index en-au 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:49764 Wed 31 May 2023 08:45:47 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:15066 Wed 11 Apr 2018 14:58:51 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:53302  0.9). We observed the strongest evidence to date for OPRM1: lead SNP rs9478500 (p = 2.56 × 10–9). Gene-based analyses identified novel genome-wide significant associations with PPP6C and FURIN. Variants within these loci appear to be pleiotropic for addiction and related traits.]]> Tue 21 Nov 2023 12:03:34 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:20561 Tue 10 Oct 2023 08:38:59 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:53491 Thu 30 Nov 2023 15:43:58 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:40278 Thu 28 Jul 2022 13:54:47 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:21532 −3), and we confirm association of rs7521902 at 1p36.12 near WNT4. In addition, we establish an association of rs13394619 in GREB1 at 2p25.1 with endometriosis and identify a newly associated locus at 12q22 near VEZT (rs10859871). Excluding cases of European ancestry of minimal or unknown severity, we identified additional previously unknown loci at 2p14 (rs4141819), 6p22.3 (rs7739264) and 9p21.3 (rs1537377). All seven SNP effects were replicated in an independent cohort and associated at P <5 × 10⁻⁸ in a combined analysis. Finally, we found a significant overlap in polygenic risk for endometriosis between the genome-wide association cohorts of European and Japanese descent (P = 8.8 × 10⁻¹¹), indicating that many weakly associated SNPs represent true endometriosis risk loci and that risk prediction and future targeted disease therapy may be transferred across these populations.]]> Sat 24 Mar 2018 07:50:27 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:26880 -8). Limitations, Reasons for Caution: The meta-analysis for moderate-to-severe endometriosis included results of moderate-to-severe endometriosis cases from our European data sets and all endometriosis cases from the Japanese data sets, as disease stage information was not available for endometriosis cases in the Japanese data sets. Wider Implications of the Findings: SNP rs6542095 is located ~2.3 kb downstream of the IL1A gene and ~6.9 kb upstream of cytoskeleton-associated protein 2-like (CKAP2L) gene. The IL1A gene encodes the IL1a protein, a member of the interleukin 1 cytokine family which is involved in various immune responses and inflammatory processes. These results provide important replication in an independent Japanese sample and, for the first time, association of the IL1A locus in endometriosis patients of European ancestry. SNPs within the IL1A locus may regulate other genes, but if IL1A is the target, our results provide supporting evidence for a link between inflammatory responses and the pathogenesis of endometriosis. Study Funding/Competing Interest(s): The research was funded by grants from the Australian National Health and Medical Research Council and Wellcome Trust. None of the authors has competing interests for the study.]]> Sat 24 Mar 2018 07:41:44 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:28053 Sat 24 Mar 2018 07:41:03 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:27149 -5): rs9478495, rs3778150, rs9384169, and rs562859. Rs3778150, located in OPRM1 intron 1, was significantly replicated (p = 6.3 x 10^-5). Meta-analysis across all case-control cohorts resulted in p = 4.3 x 10^-8: the rs3778150-C allele (frequency = 16%-19%) being associated with increased heroin addiction risk. Importantly, the functional SNP allele rs1799971-A was associated with heroin addiction only in the presence of rs3778150-C (p = 1.48 x 10^-6 for rs1799971-A/rs3778150-C and p = .79 for rs1799971-A/rs3778150-T haplotypes). Lastly, replication was observed for six other intron 1 SNPs that had prior suggestive associations with heroin addiction (smallest p = 2.7 x 10^-8 for rs3823010). Conclusions: Our findings show that common OPRM1 intron 1 SNPs have replicable associations with heroin addiction. The haplotype structure of rs3778150 and nearby SNPs may underlie the inconsistent associations between rs1799971 and heroin addiction.]]> Sat 24 Mar 2018 07:32:55 AEDT ]]> 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 ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:30005 Mon 17 Oct 2022 12:06:14 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:39717 Fri 17 Jun 2022 17:31:05 AEST ]]>