Table 2 Genes significantly associated with urine levels of ratios between fatty acids and amino acids.

From: Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

Ratio of metabolites A / B

Gene

Burden

SKAT

No. of used SNPs

Total MAC

p-value

p-gain

Lower metabolite p-value

p-value

p-gain

Lower metabolite p-value

Trans-2-hexenoylglycine/hexanoylglycine

ACADM

7.2E−33

1.4E+20

1.0E−12 B

7.5E−42

1.3E+27

9.4E−15 B

6

109

4-Methylhexanoylglutamine/hexanoylglutamine

ACY1

2.9E−13

3.0E+08

8.6E−05 B

3.6E−13

3.8E+08

1.4E−04 B

8

127

N-acetylglycine/glycine

ACY1

1.7E−25

1.4E+06

2.4E−19 A

1.4E−28

2.3E+08

3.1E−20 A

8

123

Cystathionine/1-carboxyethylisoleucine

CTH

7.4E−24

4.6E+22

3.4E−01 A

2.5E−24

3.2E+22

7.8E−02 A

3

93

Betaine/dimethylglycine

DMGDH

1.9E−46

1.2E+10

2.4E−36 B

1.4E−48

3.2E+14

4.5E−34 B

10

128

Tigloylglycine/isovalerylglycine

IVD

2.2E−09

1.1E+05

2.3E−04 B

4.3E−12

1.2E+07

5.1E−05 B

3

18

Tyrosine/phenylalanine

PAH

4.2E−27

1.3E+22

5.4E−05 B

5.4E−18

8.8E+14

4.7E−03 B

12

85

Lysine/threonine

SLC7A9

8.0E−12

2.7E+06

2.2E−05 A

5.6E−10

2.3E+06

1.3E−03 A

10

53

  1. Gene symbols are shown italicized. Lower metabolite p-value: displays the lower of the two p-values from gene-based tests of the individual metabolites A and B that are part of the respective ratio. For each significant gene, only the ratio with the smallest p-value and largest p-gain is shown. The genome-wide significance threshold was p < 4.02E−11, and associations were filtered for p-gain >537,140 (Methods). The same significance threshold for the burden and SKAT tests was chosen (two-sided test).