Table 1.
Nineteen unique locus-metabolite mGWAS pairs identified in 490 elite athletes, including two novel gene/metabolite associations and four known gene/metabolite associations but with novel SNPs.
| Elite athletes | Non-elite athletes27 | Non-elite athletes25 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Locus | rs ID | MAF | Metabolite | P value | Beta | SE. Beta | r2 (%) | Function (GVS) | Comment | Beta | GWAS p-value | r2 (%) | Beta | Locus p-value | r2 (%) |
| FOLH1 | rs55729124 | 0.06 | N-acetyl-aspartyl-glutamate (NAAG) | 2.17E-11 | −0.95 | 0.14 | 9.35 | Intron | Novel gene/metabolite association | ||||||
| VNN1 | rs3798793 | 0.42 | Linoleoyl ethanolamide | 3.15E-13 | 0.46 | 0.06 | 10.82 | Intron | |||||||
| SGPP1 | rs17101394 | 0.17 | Ceramide (d16:1/24:1, d18:1/22:1)* | 1.52E-10 | 0.52 | 0.08 | 8.59 | Intergenic | Reported SNP association but with different metabolites | 0.38 | 3.76E-16 | 2.4 | |||
| CYP3A7 | rs11568825 | 0.01 | Androsterone sulfate | 3.91E-17 | −1.88 | 0.21 | 14.11 | Upstream-gene | |||||||
| 0.01 | Epiandrosterone sulfate | 2.82E-12 | −1.55 | 0.22 | 9.95 | Upstream-gene | |||||||||
| 0.01 | 5alpha-androstan-3alpha,17beta-diol monosulfate (1) | 3.31E-11 | −1.53 | 0.23 | 9.2 | Upstream-gene | |||||||||
| CYP3A7 | rs45446698 | 0.03 | Androsterone sulfate | 4.62E-31 | −1.92 | 0.15 | 24.82 | Upstream-gene | Reported | −0.13 | 1.02E-126 | 0.5 | |||
| AGMAT | rs6429759 | 0.48 | Beta-guanidinopropanoate | 2.98E-25 | 0.74 | 0.07 | 28.54 | Intron | 0.28 | 1.57E-14 | 2.3 | ||||
| CERS4 | rs7258249 | 0.46 | Sphingomyelin (d18:1/20:1, d18:2/20:0)* | 7.17E-11 | 0.40 | 0.06 | 8.6 | Upstream-gene | −0.3 | 5.02E-16 | 2.6 | ||||
| FADS1 | rs174547 | 0.30 | 1-arachidonoyl-GPC (20:4n6)* | 1.18E-13 | −0.48 | 0.06 | 11.04 | Intron | −0.62 | 7.86E-69 | 10.2 | ||||
| KLKB1 | rs3733402 | 0.48 | Leucylglycine | 6.80E-12 | 0.40 | 0.06 | 9.68 | Missense | −0.54 | 2.84E-53 | 8.8 | ||||
| NAT2 | rs1495741 | 0.27 | 5-acetylamino-6-formylamino-3-methyluracil | 5.48E-17 | 0.74 | 0.08 | 21.44 | Intergenic | 0.57 | 1.39E-134 | 4.9 | ||||
| NAT8 | rs1881245 | 0.27 | N-acetyl-1-methylhistidine* | 5.76E-39 | 0.87 | 0.06 | 30.92 | Intron | 0.28 | 1.85E-93 | 1.8 | −0.78 | 4.4 E-47 | 26.6 | |
| PYROXD2 | rs7072216 | 0.35 | N-methylpipecolate | 1.23E-59 | −0.96 | 0.05 | 43.68 | Intron | −0.66 | 9.13 E-26 | 18.3 | ||||
| SLC22A10 | rs75859219 | 0.06 | Etiocholanolone glucuronide | 5.04E-13 | 0.96 | 0.13 | 10.73 | Upstream-gene | 0.86 | 4.18E-35 | 4.8 | ||||
| SLC22A16 | rs12210538 | 0.24 | Dihomo-linolenoylcarnitine (20:3n3 or 6)* | 8.67E-14 | −0.54 | 0.07 | 11.24 | Missense | −0.42 | 3.27E-24 | 3.8 | ||||
| SLC6A13 | rs11613331 | 0.46 | Deoxycarnitine | 1.93E-11 | 0.39 | 0.06 | 9.15 | Intron | −0.44 | 4.26E-40 | 5.8 | ||||
| SLCO1B1 | rs4363657 | 0.14 | Glycochenodeoxycholate glucuronide (1) | 7.18E-13 | 0.69 | 0.09 | 10.53 | Intron | −0.24 | 7.74E-37 | 0.9 | 0.83 | 3.06 E-31 | 18.5 | |
| SPTLC3 | rs680379 | 0.35 | Sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)* | 1.20E-12 | 0.49 | 0.07 | 10.24 | Intergenic | 0.24 | 7.91E-09 | 1.5 | ||||
| TMPRSS11E | rs35307342 | 0.36 | 5alpha-androstan-3alpha,17beta-diol monosulfate (1) | 6.48E-12 | 0.47 | 0.07 | 9.9 | Intron | −0.54 | 2.14E-07 | 1.1 | −0.74 | 3.28 E-35 | 21.4 | |
| UGT1A10 | rs10168416 | 0.31 | Biliverdin | 2.67E-14 | 0.50 | 0.06 | 11.68 | Intron | −0.27 | 7.81E-70 | 0.5 | ||||
| UNC119B | rs2066938 | 0.29 | Ehylmalonate | 6.16E-37 | 0.82 | 0.06 | 29.79 | 3-prime-UTR | 0.96 | 1.11E-299 | 1.5 | ||||
r2 is percent of explained variance. Highlighted rows indicate novel significant mGWAS. Biochemical Name* indicates compounds that have not been confirmed using reference standards, but Metabolon is confident in their identities based on exact mass and fragmentation pattern.