| Meta-analysis summary statistics for associations meeting genome-wide significance | |||||||
|---|---|---|---|---|---|---|---|
| Lead SNP | Biochemicals | EA/OA | Ntotal | EAF | Effect (SE) | Pmeta | Details |
| 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 | |
|---|---|
| SNP | rs721399 |
| Chromosomal location | Chr8: 18,316,718 (8p22) |
| Gene (distance) | NAT2 (644) |
| Predicted causal gene | NAT2 |
| Gene/protein classification | metabolic enzyme |
| Metabolite (Pathway) | 1-methylxanthine (Xanthine metabolism; Xenobiotics) |
| Biochemical locus-metabolite relationship | NAT2 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 associations | Bladder cancer [20972438]; Total cholesterol, triglycerides [20686565] |
| Known metabolite associations | 1-methylxanthine/4-acetamidobutanoate [21886157] (r2=0.748 with rs1495743); Urinary metabolites [21572414] |
| Inborn error of metabolism | - |
| Pharmacological information | |
|---|---|
| ChEMBL ID | CHEMBL2194 |
| Drug information | Substrates: isoniazid, hydralazine, procainamide, dapsone, aminoglutethimide, and sulfamethazine |
| Locus information for top associated metabolite | |
|---|---|
HapMap2 imputation | 1KGP imputation |
