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

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 isobutyrylglycine
Metabolite Accession: GCST90199798
Name: isobutyrylglycine
Hmdb Id: HMDB0000730
Super Pathway: NA
Sub Pathway: NA
Inchikey: DCICDMMXFIELDF

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):
-0.302
Position:
211540507
SE (Ratio):
0.021
Effect Allele:
A
Z-score (Ratio):
-14.168
Reference Allele:
C
-log10(P):
-103.252
MAF:
0.310
Beta (Num):
-0.076
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.226
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], 7[3]

Denominator Metabolite Explanation:

Valine catabolism.8[1], 9[2], 10[3]

Ratio Explanation:

This ratio reflects altered turnover in methionine and valine amino acid pathways, likely due to impaired nitrogen disposal from *CPS1* dysfunction.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired *CPS1* function leads to hyperammonemia, a systemic condition causing liver (cholelithiasis) and kidney stress, explaining the associations with renal failure and chronic kidney disease.1[1], 11[2], 12[3], 13[4] The widespread metabolic and hematological abnormalities are also consistent with systemic ammonia toxicity.

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