Fig. 4: Associations of CpGs at SLC2A9 with serum urate levels and gene expression in monocytes.

CpGs in the SLC2A9 region (A) with the effect size of DNA methylation on gene expression in monocytes at five replicated CpGs (B) and the effect size of serum urate on DNA methylation levels at these same five CpGs (C). All labeled CpGs were replicated. In the legend, MR indicates CpGs with a significant causal effect on serum urate levels based on Mendelian randomization analysis. Colors of the estimates in panels B and C match the color legend in panel A. Promoter-associated annotation was based on the Illumina HM450K annotation file. The gene models were based on RefSeq curated genes. The correlations between the CpGs were generated using DNA methylation data from 804 European Americans participants of the ARIC study. The association between DNA methylation and monocyte gene expression in panel B is based on Kennedy et al. BMC Genomics 2018 (n = 1202). The DNA methylation estimates in panel C are based on the meta-analysis combining discovery and replication cohorts in the present study (n = 17,996). Genbank RefSeq accession numbers: isoform 1 (NM_020041), isoform 2 (NM_001001290). MR Mendelian randomization, assoc. associated.