Table 1 EA (European-American) population, LoF-metabolite relationships at p-value 4e-07 or smaller. Effect sizes measured in standard deviation units to facilitate comparison. The last column “Human phenotypes related to metabolites” was obtained through Human Metabolome database, http://www.hmdb.ca/
Gene | SNP | MAF | Metabolite | Path-way | Effect Size (Std. Error) | p-value | Human phenotypes related to metabolites |
|---|---|---|---|---|---|---|---|
TPTE | X21:10907041:C:A | 8 | O-sulfo-L-tyrosine | – | 1.75 (0.34) | 2e-07 | |
myoinositol | Lipid | 2.23 (0.35) | 2e-10 | Schizophrenia | |||
MYO1A | X12:57441459:G:A | 9 | heptanoate | Lipid | 1.95 (0.33) | 4e-09 | Cardiac disease |
glycerol | Lipid | 1.70 (0.33) | 3e-07 | Schizophrenia, Diabetes mellitus type 2 | |||
GZMM | X19:549171:C:T | 4 | octanoylcarnitine | Lipid | 1.46 (0.26) | 4e-08 | Medium-chain acyl-CoA dehydrogenase deficiency |
PLAC4 | X21:42551432:T:A | 9 | androsten-3-beta-17 beta-diol-disulfate1 | Lipid | 1.95 (0.33) | 4e-09 | NA |
LRTOMT | X11:71807767:A:C | 10 | betaine | 0.67 (0.23) | 7e-09 | Chronic renal failure and hemodialysis, Schizophrenia | |
PDE4DIP | X1:145074975:G:A | 17 | dodecanedioate | Lipid | 1.84 (0.24) | 1e-14 | Diabetes mellitus type 2 (34) |
OBSCN | X1.228469903.A.T | 8 | serine | Amino acid | 1.89 (0.34) | 7e-08 | Schizophrenia and epilepsy, Leukemia, Heart failure |
THSD7B | X2:138030234:C:T | 19 | glycylvaline | Peptide | 1.61 (0.23) | 1e-12 | NA |
C5orf45 | X5:179280392:G:A | 8 | cis-4-decenoylcarnitine | Lipid | 3.10 (0.34) | 2e-16 | Celiac disease, Very long chain acyl-Coa dehydrogenase deficiency |
DSE | X6.116600895.G.A | 10 | pregn steroid monosulfate | Lipid | 1.65 (0.31) | 1e-07 | Schizophrenia |
EGFL8 | X6:32134395:C:G | 8 | myristoleate | Lipid | 2.51 (0.35) | 8e-13 | NA |
GPNMB | X7:23313823:G:T | 12 | lactate | Amino acid | 1.80 (0.28) | 3e-10 | Hepatobiliary, Psychiatric, Mitochondrial dysfunction, Metabolism and nutrition disorders |
C10orf53 | X10:50901917:C:A | 8 | hydroxybutyrate | Amino acid | 1.78 (0.35) | 4e-07 | Schizophrenia, Pyruvate dehydrogenase deficiency |
SERPINA10 | X14:94754643:C:T | 14 | prohydroxyproline | 1.45 (0.26) | 4e-08 | NA | |
LTK | X15:41796352:C:A | 8 | glycocholenatesulfate | Lipid | 2.04 (0.35) | 6e-09 | NA |
CCDC154 | X16:1484536:C:T | 14 | glycerol-phosphorylcholine | Lipid | 1.41 (0.26) | 1e-07 | Multi-infarct dementia |
RHBDL1 | X16:726189:C:T | 14 | phosphate | Lipid | 1.75 (0.26) | 4e-11 | NA |
ZNF211 | X19:58153465:T:A | 12 | myristoleate | Lipid | 1.73 (0.28) | 1e-09 | NA |