5-methylthioadenosine (mta) to isobutyrylglycine

Numerator Metabolite

Structure of 5-methylthioadenosine (mta)
Metabolite Accession: GCST90200359
Name: 5-methylthioadenosine (mta)
Hmdb Id: HMDB0001173
Super Pathway: NA
Sub Pathway: NA
Inchikey: WUUGFSXJNOTRMR

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):
-0.333
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-14.734
Reference Allele:
C
-log10(P):
-111.463
MAF:
0.310
Beta (Num):
-0.107
Novel Locus:
No
SE (Num):
0.016
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, polyamine synthesis.8[1], 9[2], 10[3], 11[4]

Denominator Metabolite Explanation:

Valine catabolism.12[1], 13[2], 14[3], 15[4]

Ratio Explanation:

The ratio likely reflects the balance between methionine/polyamine pathways (MTA) and valine catabolism (isobutyrylglycine), influenced by overall nitrogen homeostasis controlled by the urea cycle.16[1], 17[2], 18[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

The *CPS1* variant likely impairs the urea cycle, disrupting nitrogen homeostasis.19[1], 20[2], 21[3] This can elevate BUN and creatinine, contributing to chronic kidney disease and renal failure. Systemic effects on liver metabolism and amino acid balance may explain links to cholelithiasis and hematological traits.22[4], 23[5]

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