2,3-dihydroxy-5-methylthio-4-pentenoate (dmtpa)* to n-acetylputrescine

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

Structure of n-acetylputrescine
Metabolite Accession: GCST90200351
Name: n-acetylputrescine
Hmdb Id: HMDB0002064
Super Pathway: NA
Sub Pathway: NA
Inchikey: KLZGKIDSEJWEDW

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):
-0.146
Position:
211540507
SE (Ratio):
0.020
Effect Allele:
A
Z-score (Ratio):
-7.505
Reference Allele:
C
-log10(P):
-30.423
MAF:
0.310
Beta (Num):
-0.076
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.071
SE (Den):
0.016
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:

Polyamine metabolism, Arginine and proline metabolism.7[1], 8[2], 9[3]

Ratio Explanation:

This ratio may reflect the interplay between methionine salvage, essential for regenerating methionine consumed in polyamine synthesis, and the production of N-acetylputrescine from polyamines.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function can lead to hyperammonemia, affecting various metabolic pathways. This disruption, potentially including the methionine salvage and polyamine pathways, may contribute to the pathophysiology of cholelithiasis and chronic kidney disease, which are associated with biliary and renal system stress.10[1], 11[2]

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