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.
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 | ↑ | ↓ | ↓ | ↓ |