2,3-dihydroxy-5-methylthio-4-pentenoate (dmtpa)* to glycine conjugate of c10h14o2 (1)*

Numerator Metabolite

Structure of 2,3-dihydroxy-5-methylthio-4-pentenoate (dmtpa)*
Metabolite Accession: GCST90200233
Name: 2,3-dihydroxy-5-methylthio-4-pentenoate (dmtpa)*
Hmdb Id: HMDB0240388
Super Pathway: NA
Sub Pathway: NA
Inchikey: XMZBEAXQGSBWLG

Denominator Metabolite

Metabolite Accession: GCST90200175
Name: glycine conjugate of c10h14o2 (1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1047891

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
-0.149
Position:
211540507
SE (Ratio):
0.019
Effect Allele:
A
Z-score (Ratio):
-7.924
Reference Allele:
C
-log10(P):
-33.710
MAF:
0.310
Beta (Num):
-0.076
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.074
SE (Den):
0.017
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Methionine salvage pathway.5[1], 6[2]

Denominator Metabolite Explanation:

Xenobiotic metabolism, Glycine conjugation pathway.7[1]

Ratio Explanation:

The ratio may reflect altered ammonia detoxification by CPS1 influencing methionine metabolism, but a direct enzymatic or pathway link between the two metabolites is not established.

Ratio Evidence:

metabolites unrelated

Gene Ratio Phenotype Relationship:

Reduced CPS1 activity can lead to hyperammonemia, which is linked to renal failure.8[1], 9[2] The association with cholelithiasis may be due to CPS1's release during liver injury and its role as a protective cytokine.10[3], 11[4], 12[5] The connection to other phenotypes likely involves complex downstream metabolic dysregulation.

Phenotype Driver:

Gene-centric:CPS1

Downloads

Download the full rQTL summary statistics file for this metabolite ratio. Data contains the loci listed here. For each SNP (chromosome, effect_allele, reference_allele, pos_name, position) these columns contain the summary statistics of the ratio (beta, pgain, pval, se, z), the numerator metabolite (beta_1, pval_1, n_iids_1, effect_allele_frequency_1, se_1, z_1) and the denominator metabolite (beta_2, pval_2, n_iids_2, effect_allele_frequency_2, se_2, z_2)

Download rQTL Data