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Table 1 Human gene-metabolite associations identified by mQTL/mGWAS

From: Genetic determinants of metabolism in health and disease: from biochemical genetics to genome-wide associations

Metabolite Biofluid SNP ID Local gene P-value Reference(s)
Trimethylamine Urine rs7072216 PYROXD2 (C10orf33) 7.90E-15 [79]
N-acetylated compound(s) Urine rs9309473 ALMS1, NAT8, TPRKB, DUSP11 1.40E-11 [79]
3-Amino-isobutyrate Urine rs37369 AGXT2 1.1E-06 [79]
     3.17E-75 [82]
2-Hydroxyisobutyrate Urine rs830124 WDR66, HPD 1.59E-15 [82]
Dimethylamine Plasma rs6584194 PYROXD2 (C10orf33) 8.10E-03 [79]
Sphingomyelin SM C14:10 Serum rs9309413 PLEK 1.95E-09 [77]
Lysine Serum rs992037 PARK2 1.20E-07 [77]
Sphingomyelin SM(OH,COOH) C18:2 Serum rs1148259 (rs1200826) ANKRD30A 3.04E-09 [77]
Phosphatidylcholine PC aa C36:4 Serum rs174548 FADS1 4.52E-08 [77]
Phosphatidylethanolamine PE aa C38:6 Serum rs4775041 LIPC 9.66E-08 [77]
C0 Serum rs7094971 SLC16A9 3.80E-20 [78]
N-Acetylornithine Serum rs13391552 NAT8 5.40E-252 [81]
5-Oxoproline Serum rs6558295 OPLAH 1.50E-59 [81]
Androsterone sulfate Serum rs17277546 CYP3A4 8.70E-40 [81]
Urate Serum rs4481233 SLC2A9 5.50E-34 [81]
Glycine Serum rs2216405 CPS1 1.60E-27 [81]
   rs7422339 CPS1 2.12E-24 [83]
Succinylcarnitine Serum rs2652822 LACTB 7.20E-27 [81]
Isobutyrylcarnitine Serum rs662138 SLC22A1 7.30E-25 [81]
Aspartylphenylalanine Serum rs4329 ACE 8.20E-20 [81]
Serine Serum rs477992 PHGDH 2.60E-14 [81]
Inosine Serum rs494562 NT5E 7.40E-13 [81]
Proline Serum rs2023634 PRODH 2.00E-22 [81]
α-Hydroxyisovalerate Serum rs2403254 HPS5 1.00E-20 [81]
Bradykinin, des-arg(9) Serum rs4253252 KLKB1 6.60E-18 [81]
Glutamine Serum rs2657879 GLS2 3.10E-17 [81]
Isovalerylcarnitine Serum rs272889 SLC22A4 7.40E-16 [81]
Decanoylcarnitine Serum rs8396 ETFDH 5.50E-15 [81]
Carnitine Serum rs7094971 SLC16A9 3.40E-14 [81]
  1. Shown here are the SNP-metabolite associations with the highest statistical significance, as in [77, 79, 8183]. Associations with metabolite concentration were reported for a total of 28 unique SNPs, as shown above. Associations with ratios of multiple metabolites were reported for an additional 30 unique SNPs, but are not included in this table.