https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:26934 KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2) and GRID2IP (glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein), showed consistent IBS risk effects in the index GWAS and all replication cohorts and reached p=9.31×10-6 in a meta-analysis of all datasets. Several SNPs in this region are associated with cis effects on KDELR2 expression, and a trend for increased mucosal KDLER2 mRNA expression was observed in IBS cases compared with controls. Conclusions: Our results demonstrate that general population-based studies combined with analyses of patient cohorts provide good opportunities for gene discovery in IBS. The 7p22.1 and other risk signals detected in this study constitute a good starting platform for hypothesis testing in future functional investigations.]]> Sat 24 Mar 2018 07:27:31 AEDT ]]> Characterizing the genetic risk for type 2 diabetes in a Malaysian multi-ethnic cohort https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:27574 Sat 24 Mar 2018 07:23:41 AEDT ]]>