gamma-glutamylhistidine to isobutyrylglycine

Numerator Metabolite

Structure of gamma-glutamylhistidine
Metabolite Accession: GCST90200315
Name: gamma-glutamylhistidine
Hmdb Id: HMDB0029151
Super Pathway: NA
Sub Pathway: NA
Inchikey: PXVCMZCJAUJLJP

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):
-0.328
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-14.236
Reference Allele:
C
-log10(P):
-104.224
MAF:
0.310
Beta (Num):
-0.102
Novel Locus:
No
SE (Num):
0.017
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:

Glutathione metabolism, amino acid metabolism.11[1], 12[2]

Denominator Metabolite Explanation:

Fatty acid metabolism, valine catabolism.13[1], 14[2], 15[3], 16[4], 17[5]

Ratio Explanation:

The ratio may reflect a shift in nitrogen metabolism, where impaired urea cycle function (CPS1) could influence pathways involving both gamma-glutamylhistidine and isobutyrylglycine.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function can lead to hyperammonemia, affecting amino acid and nitrogen balance, which is associated with renal dysfunction and may influence the risk of cholelithiasis through altered bilirubin and cholesterol metabolism, aligning with the observed phenotypes.18[1], 19[2], 20[3]

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