https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology. https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:23064 combined=3.32 x 10(-15), OR=1.72) and independent from rs3731217, the previously reported ALL-associated variant in this region. Of correlated SNPs tagged by this locus, only rs662463 is significant in African Americans, suggesting it is a plausible causative variant. Functional analysis shows that rs662463 is a cis-eQTL for CDKN2B, with the risk allele associated with lower expression, and suggests that rs662463 influences BCP-ALL risk by regulating CDKN2B expression through CEBPB signalling. Functional analysis of rs3731217 suggests it is associated with BCP-ALL by acting within a splicing regulatory element determining CDKN2A exon 3 usage (P=0.01). These findings provide new insights into the critical role of the CDKN2 locus in BCP-ALL aetiology.]]> Sat 24 Mar 2018 07:12:28 AEDT ]]> Gene expression imputation across multiple brain regions provides insights into schizophrenia risk https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:47780 Mon 30 Jan 2023 10:58:57 AEDT ]]> Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:44579 Mon 17 Oct 2022 14:17:20 AEDT ]]>