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Chronic kidney disease (CKD) has a prevalence of approximately 10% in adult populations. CKD can progress to end-stage renal disease (ESRD) and this is usually fatal unless some form of renal replacement therapy (chronic dialysis or renal transplantation) is provided. There is an inherited predisposition to CKD with several genetic risk markers now identified. The  UMOD  gene has been associated with CKD of varying aetiologies. An AmpliSeq next generation sequencing panel was developed to facilitate comprehensive sequencing of the  UMOD  gene, covering exonic and regulatory regions. SNPs and CpG sites in the genomic region encompassing  UMOD  were evaluated for association with CKD in two studies; the UK Wellcome Trust Case-Control 3 Renal Transplant Dysfunction Study (n = 1088) and UK-ROI GENIE GWAS (n = 1726). A technological comparison of two Ion Torrent machines revealed 100% allele call concordance between S5 XL ™  and PGM ™  machines. One SNP (rs183962941), located in a non-coding region of  UMOD , was nominally associated with ESRD (p = 0.008). No association was identified between  UMOD  variants and estimated glomerular filtration rate. Analysis of methylation data for over 480,000 CpG sites revealed differential methylation patterns within  UMOD , the most significant of these was cg03140788 p = 3.7 x 10 −10 .

Development of next generation sequencing panel for UMOD and association with kidney disease