Genetic and epigenetic analysis of ELMO1 for association with kidney disease

Research output: Contribution to conferencePosterpeer-review


End stage kidney disease (ESKD) is the most severe stage of chronic kidney disease (CKD). In 2011, the incidence of renal replacement therapy for ESKD in Europe was 117 per million population, creating substantial healthcare costs. Selected SNPs and differential methylation, with corresponding changes to gene expression of ELMO1, have been associated with CKD leading to dysregulation of extracellular matrix proteins. We sought to evaluate SNPs and CpG sites in ELMO1, performing meta-analysis of independent studies and exploring relevant methylation quantitative trait loci (meQTLs).

A comprehensive literature review conducted for ELMO1 facilitated meta-analysis for SNPs that were present in greater than three studies with similar kidney phenotypes. The Infinium® methylation 450K BeadChip array (Illumina, Inc, USA) was used to analyse DNA methylation across the methylome in 255 CKD cases and 152 controls without kidney disease. Following stringent quality control, significant CpG sites in ELMO1 were identified. The top ranked CpG site for this gene was cg05642546 (P=4.8x10-27). Genome-wide SNP data (n=561,233 SNPs; 372 individuals) from the Illumina 660K array was analysed in PLINK with methylation data from CpG sites in the ELMO1 gene to identify meQTLs associated with ESKD and healthy individuals. No genome-wide significant cis-meQTLs were identified for ELMO1, however genome-wide significant results for trans-meQTLs appear to affect ELMO1 through regulatory effects.

We have provided a genomic map of ELMO1 that combines published and novel data to help resolve conflicting association data and suggest a mechanism of how ELMO1 influences kidney disease.
Original languageEnglish
Publication statusPublished - Jun 2015
EventThe European Human Genetics Conference 2015 - SECC, Glasgow, United Kingdom
Duration: 06 Jun 201509 Jun 2015 (Link to event details online)


ConferenceThe European Human Genetics Conference 2015
Country/TerritoryUnited Kingdom
Internet address


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