Table 1 Genes having replicated CpG(s) associated with gene expression in whole blood or monocytes, with significant causal effects for urate or gout, associated with cardiometabolic traits, or annotated as a GWAS locus for urate or gout.

From: Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus

    

Direction of effect of the replicated CpGs

  

Chr

Gene

Function of encoded protein

No. of replicated CpG(s)

Serum urate

Gene expression in whole blood

Gene expression in monocyte

Cardiometabolic traits

Causal effect

GWAS locus (urate, gout)

1

LRRC8D

Anion channel component

1

 

   

1

NBPF20/PDZK1

Neuroblastoma breakpoint family member/scaffolding protein incl. urate transporters

1

  

 

Urate, gout

1

PHGDH

Enzyme in L-serine biosynthesis

2

  

1

SARS

Enzyme catalyzing L-serine transfer to tRNA

1

  

  

3

CLEC3B

Encodes tetranectin

1

 

   

3

PARP3

Encodes poly(ADP-ribosyl)transferase 3

1

   

4

SLC2A9a

Urate transporter

7

↑↓

 

↑↓

 

Urate, gout

Urate, gout

4

SLC7A11

Component of cysteine/glutamate exchanger

1

  

  

5

PURA

DNA-binding protein

1

 

   

6

LINC01512

RNA gene

 

  

  

7

GARS

Enzyme catalyzing glycine transfer to tRNA

2

  

  

7

SH2B2

Adapter protein for tyrosine kinase receptor family members

1

  

  

9

UAP1L1

Encodes UDP-N-Acetylglucosamine Pyrophosphorylase 1 Like 1

1

   

11

CPT1A

Enzyme in mitochondrial uptake of long-chain fatty acids

1

  

  

11

HRASLS2

(PLAAT2) enzyme with phospholipase A1/2 and acyltransferase activities

1

    

Urate

11

SLC43A1

Large neutral amino acid transporter

1

  

  

11

WEE1

Ser/Thr tyrosine kinase

1

  

  

14

GALC

Enzyme in hydrolyzation of glycolipids

1

 

   

14

WARS

Enzyme catalyzing tryptophan transfer to tRNA

1

    

16

NOD2

Protein involved in immune response

1

 

  

19

BCL3

Transcriptional activator

1

  

  

19

NFIX

Transcription factor

1

 

   

19

SLC1A5

Neutral amino acid transporter

6

  

21

ABCG1

Member of the ABC transporter family, phospholipid efflux

1

  
  1. The arrows indicate the effect direction of DNA methylation at each replicated CpG.
  2. Gene function was obtained from Uniprot, EntrezGene, and/or PubMed.
  3. Chr chromosome.
  4. aAt SLC2A9, the up and down arrows indicate that some CpGs in this gene were associated with serum urate and gene expression in the positive direction and some in the negative direction.