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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, 81–83]. 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.