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

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 isovalerylglycine
Metabolite Accession: GCST90199785
Name: isovalerylglycine
Hmdb Id: HMDB00678
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZRQXMKMBBMNNQC

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):
-0.295
Position:
211540507
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-13.623
Reference Allele:
C
-log10(P):
-95.632
MAF:
0.310
Beta (Num):
-0.076
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.219
SE (Den):
0.018
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Methionine salvage pathway.4[1], 5[2], 6[3], 7[4]

Denominator Metabolite Explanation:

Leucine catabolism, Glycine conjugation pathway.8[1], 9[2], 10[3]

Ratio Explanation:

The ratio may reflect a metabolic shift where impaired urea cycle function (CPS1) influences pathways for amino acid catabolism and salvage, though a direct link is not established.

Ratio Evidence:

metabolites unrelated

Gene Ratio Phenotype Relationship:

Impaired CPS1 function can lead to hyperammonemia, affecting liver and kidney function.11[1], 12[2], 13[3] Cholelithiasis has been observed in patients with low CPS1 expression and intrahepatic cholangiocarcinoma.14[4] DMTPA is also a marker for reduced glomerular filtration rate.4[5], 5[6]

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