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Table 1 Genetically influenced metabolites. Significant genetic variant–metabolite associations at a genome-wide significance of p < 3.5 × 10–12 (= 5 × 10–8/14,342 features) are shown.

From: Comprehensive characterization of putative genetic influences on plasma metabolome in a pediatric cohort

Feature (m/z, RT)

Lead SNP position*

EA, OA

EAF

Beta

Standard error

p value

Candidate genes

m/z 394.8915, RT 68.1

chr9:72,902,395

G, A

0.14

− 0.49

0.063

4.94E−14

ALDH1A1

m/z 640.3195, RT 278.2

chr20:38,052,517

G, T

0.08

− 1.23

0.167

7.35E−13

RPRD1B

 

chr10:66,637,441

A, G

0.07

− 0.69

0.090

1.56E−13

CTNNA3

m/z 709.0644, RT 190.3

chr8:47,661,411

A, G

0.07

0.93

0.128

1.80E−12

SPIDR

m/z 101.5811, RT 100.6

chr10:98,377,943

T, C

0.46

− 0.61

0.065

4.82E−19

PYROXD2**

m/z 161.1285, RT 106.1

(N6-Methyl-L-lysine)

chr10:98,377,943

T, C

0.46

− 0.49

0.061

6.98E−15

PYROXD2**

m/z 162.1321, RT 106.9

(N6-Methyl-L-lysine)

chr10:98,377,943

T, C

0.46

− 0.54

0.064

3.32E−16

PYROXD2**

m/z 175.1442, RT 104.5

(Ne,Ne dimethyllysine)

chr10:98,377,943

T, C

0.46

− 0.55

0.056

6.20E−21

PYROXD2**

m/z 188.9574, RT 44.2

chr12:66,599,541

C, T

0.06

− 1.22

0.164

5.69E−13

GRIP1

 

chr15:88,215,350

A, C

0.15

− 0.84

0.116

2.85E−12

NTRK3

 

chr21:14,901,801

G, C

0.13

− 0.85

0.117

1.94E−12

NRIP1

m/z 220.1777, RT 24

chr16:7,273,260

C, T

0.08

− 1.03

0.137

3.45E−13

RBFOX1

m/z 269.0023, RT 125.5

(fenson)

chr4:40,241,127

G, C

0.06

0.47

0.061

9.20E−14

RHOH

m/z 283.2741, RT 27.6

chr7:12,354,019

G, A

0.12

0.27

0.037

1.55E−12

VWDE

 

chr7:72,362,534

A, G

0.07

0.35

0.047

3.02E−13

CALN1

m/z 300.2167, RT 37.1

chr2:210,210,185

C, T

0.31

0.68

0.077

5.62E−17

ACADL**

m/z 781.7483, RT 89.3

chr8:3,674,391

C, T

0.11

0.73

0.093

2.29E−14

CSMD1

  1. The features with identified metabolites or high/medium confidence annotations are listed with chemical names. EA, effect allele; OA, other allele; EAF, effect allele frequency; m/z, mass-to-charge ratio; and RT, retention time in seconds
  2. *Represented as chromosome:position based on the human reference genome GRCh38
  3. **Previously reported genetically influenced metabotypes in adults