Inherited factors associated with end stage renal disease

• Main Author: Bennett, Theresa Anne
• Published: Queen's University Belfast 2014
• Subjects: 617.4
• Online Access: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.669554

This study assessed the contribution of inherited factors to the development of ESRD in a case-control study population comprised of exclusively White first time renal transplant recipients and their respective donors. A range of molecular methods were utilised to examine the genomic and epigenomic profiles of over 7,000 individuals, examining 2J06 SNPs, across a range of studies varying from a single SNP to single genes, gene families right through to interrogation of the major histocompatibility complex as a targeted genomic region. Stringent quality control measures were applied throughout, with replication and meta-analysis used where possible. While no single SNP locus was found to be a strong marker for ESRD, several regions within the major histocompatibility region are worthy of further investigation for association with ESRD, especially with regards to DNA methylation. The large scale consortium based collaborations which are becoming more commonplace will ultimately help to shed more light on both genetic and epigenetic factors which influence ESRD susceptibility.