Table 4.
mQTL replications
| SNPs | CHR | Closest gene(s) | Discovery | COPDGene—Emorya | SPIROMICS—Metabolon | |
|---|---|---|---|---|---|---|
| rs2147896, rs7905265 | 10 | PYROXD2 | N2-acetyl,N6-methyllysine, N-methylpipecolate, N6,N6-dimethyllysine, N6,N6,N6-trimethyllysine, N2-acetyl,N6,N6-dimethyllysine, N6-methyllysine, X - 12112 | 506.130672493465_285.4155141 | N-acetyl-isoputreanine, N6-methyllysine, N2-acetyl,N6-methyllysine, N2-acetyl,N6,N6-dimethyllysine, N6,N6,N6-trimethyllysine, N6,N6-dimethyllysine, N-methylpipecolate | |
| rs174533, rs102275, rs10224, rs1404372161, rs174567, rs1535 | 11 | MYRF, THEM25B, FADS2, FADS1 | 1-Palmitoyl-2-arachidonoyl-GPC (16:0/20:4n6), Oleoyl-arachidonoyl-glycerol (18:1/20:4) [2],* 1-arachidonoyl-GPC* (20:4),* Oleoyl-arachidonoyl-glycerol (18:1/20:4) [1],* Stearoyl-arachidonoyl-glycerol (18:0/20:4) [1],*1,2-dilinoleoyl-GPC (18:2/18:2), 1-palmitoyl-2-dihomo-linolenoyl-GPC (16:0/20:3n3 or 6),*1-(1-enyl-palmitoyl)-2-arachidonoyl-GPC (P-16:0/20:4),* 1-stearoyl-2-arachidonoyl-GPC (18:0/20:4) | 1222.85903685705_175.407391, 1589.12673654366_174.9453186, 782.570331871481_178.6310904, 1588.12181759391_175.0049822, 1210.34978948251_175.6062675, 872.538808473057_175.3542714, 831.571639521416_172.2185806, 942.54035577298_179.744523, 1617.16142714192_173.1058804, 875.556039922196_181.877006, 1618.17099209145_172.9865179, 1196.33733718313_175.4123396, 1591.13917344304_174.7156649, 1208.8420355579_175.0746202, 1209.35026653248_175.0413014, 1222.35055488247_174.4656717, 874.553705272313_181.378412, | PE(20:3(8Z11Z14Z)18:1(11Z)); PC(15:020:4(8Z11Z14Z17Z)); 1621.20035693998_171.6141601, 1590.14303149284_177.2413577, 783.572309421383_174.840046, 811.603130219842_173.9750369, 1223.36030483198_172.6915558 | 1-stearoyl-2-linoleoyl-GPI (18:0/18:2), 1-palmitoyl-2-dihomo-linolenoyl-GPC (16:0/20:3n3 or 6),* 1-stearoyl-2-linoleoyl-GPE (18:0/18:2),* 1-linoleoyl-2-linolenoyl-GPC (18:2/18:3),* 1-(1-enyl-palmitoyl)-2-arachidonoyl-GPC (P-16:0/20:4),* 1-oleoyl-2-linoleoyl-GPE (18:1/18:2),* 1-palmitoyl-2-linoleoyl-GPE (16:0/18:2), 1-linoleoyl-GPE (18:2),* 1-(1-enyl-stearoyl)-2-arachidonoyl-GPE (P-18:0/20:4),*1-palmitoyl-2-arachidonoyl-GPC (16:0/20:4n6), 1-stearoyl-2-linoleoyl-GPC (18:0/18:2),* 1-arachidonoyl-GPE (20:4n6),* 1-palmitoyl-2-linoleoyl-GPC (16:0/18:2), Linoleoyl-arachidonoyl-glycerol (18:2/20:4) [2],*1-arachidonoyl-GPC*(20:4),* hydroxypalmitoyl sphingomyelin (d18:1/16:0(OH)), 1-stearoyl-2-arachidonoyl-GPC (18:0/20:4), 1-palmitoleoyl-2-linolenoyl-GPC (16:1/18:3),*1,2-dilinoleoyl-GPC (18:2/18:2), 1-palmitoyl-2-linoleoyl-GPI (16:0/18:2), linoleoyl-arachidonoyl-glycerol (18:2/20:4) [1]* |
| rs409170, rs1126464 | 16 | DPEP1 | Cys-gly, oxidized, cysteinylglycine disulfide* | l-Cysteinylglycine disulfide | cys-gly, oxidized, cysteinylglycine disulfide* | |
| rs887829, rs4148324 | 2 | UGT1A1, UGT1A8 | X - 24849, X - 16946, X - 21448, X - 11522, Succinimide, Biliverdin, X - 11530, bilirubin (E,Z or Z,E),*bilirubin (E,E),*bilirubin | Biliverdin, bilirubin, 665.245399337728_54.33459064, 633.255282337234_52.90499415, 285.123456943826_51.407805, 197.107343344632_52.0355726, 581.24057883797_54.58074146, 178.06518309674_51.11991256, 193.076070846196_49.00901634, 209.107371044631_48.9573111, 194.096443195177_49.11705413, | 167.072710946364_51.47896251, 191.072722146363_54.49274426, 180.080778195961_51.36922788, 283.10777804461_53.32993737, 299.139042143047_56.91349852, 586.274358886281_65.12241616, 2-(3-Carboxy-3-(methylammonio)propyl)-l-histidine | Bilirubin (E,E),*bilirubin, bilirubin (E,Z or Z,E),*biliverdin |
Bold text indicates replication across cohorts.
a
COPDGene—Emory metabolites not annotated by xMSAnnotator are reported as mass-to-charge ratio and retention time.
*
Indicates compounds that have not been officially confirmed based on a standard, but Metabolon is confident in its identity.
(#) or [#] indicates a compound that is a structural isomer of another compound in the Metabolon spectral library.