A key research theme explores inherited features that influence diabetic nephropathy. The national Warren 3 and GoKinD UK collections for diabetic nephropathy are based in Belfast, as is the All Ireland resource. We have used a combination of molecular genetic analyses and bioinformatic approaches to screen biologically relevant candidate genes for novel variants and investigate polymorphisms, for their role in the pathogenesis of diabetic nephropathy. Replication of results within our strong International collaborations is generating convincing research outcomes.
As part of the GENIE (GEnetics of Nephropathy, an International Effort) consortium we have assembled a large case-control collection (n>12,000 individuals) and conducted two independent genome-wide association studies for diabetic nephropathy, directly genotyping more than one million unique genetic markers. Following imputation we conducted a meta-analysis of >2.4 million SNPs, identifying novel regions that are supported by replication studies and functional data.
We are also interested in telomere and mitochondrial genetics, extending SNP-based analyses to investigate expression studies in renal disease, particularly relating GWAS hits to microarray and RNA-Seq data. Additionally, we have recently completed one of the largest studies to date evaluating epigenetic modification of DNA methylation by Illumina’s InfiniumHD Human Methylation 450K panel.