An atlas of genetic influences on human blood metabolites

Shin et al., Nature Genetics, 2014 [ Article | SI Text ]

Locus 66: NAT2 (8p22)

Meta-analysis summary statistics for associations meeting genome-wide significance
Lead SNPBiochemicalsEA/OANtotalEAFEffect (SE)PmetaDetails
rs4921914 1-methylxanthine T/C 5195 0.78 0.088 (0.005) 1.09·10-60 show
rs721399 4-acetamidobutanoate T/C 6523 0.72 -0.029 (0.002) 3.95·10-58 show
rs4921913 4-acetamidobutanoate / N1-methyladenosine T/C 6520 0.78 -0.036 (0.003) 2.8·10-47 show
rs1495741 1-methylurate A/G 5208 0.78 0.057 (0.005) 1.04·10-27 show

EA = effect allele; OA = other allele; EAF = frequency of effect allele;

Summary of biological annotations
Chromosomal locationChr8: 18,316,718 (8p22)
Gene (distance)NAT2 (644)
Predicted causal geneNAT2
Gene/protein classificationmetabolic enzyme
Metabolite (Pathway)1-methylxanthine (Xanthine metabolism; Xenobiotics)
Biochemical locus-metabolite relationshipNAT2 encodes an arylamine N-acetyltransferase [18642144]. 4?acetamidobutanoate may be a product or may be related to a product of the enzyme.
eQTL associations-


Medical information
Complex trait associationsBladder cancer [20972438]; Total cholesterol, triglycerides [20686565]
Known metabolite associations1-methylxanthine/4-acetamidobutanoate [21886157] (r2=0.748 with rs1495743); Urinary metabolites [21572414]
Inborn error of metabolism-

Pharmacological information
Drug information Substrates: isoniazid, hydralazine, procainamide, dapsone, aminoglutethimide, and sulfamethazine

Locus information for top associated metabolite

HapMap2 imputation

Imputation HapMap

1KGP imputation

Imputation 1KGP


Network view
Association map