An AmpliSeq next generation sequencing panel was developed to facilitate comprehensive sequencing of the UMOD gene, covering exonic and regulatory regions. The UMOD gene has been associated with CKD of varying aetiologies.

There is an inherited predisposition to CKD with several genetic risk markers now identified. 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. 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.Ībstract = 'Chronic kidney disease (CKD) has a prevalence of approximately 10% in adult populations. No association was identified between UMOD variants and estimated glomerular filtration rate.

One SNP (rs183962941), located in a non-coding region of UMOD, was nominally associated with ESRD (p = 0.008). A technological comparison of two Ion Torrent machines revealed 100% allele call concordance between S5 XL™ and PGM™ machines. 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). Chronic kidney disease (CKD) has a prevalence of approximately 10% in adult populations.

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