histidine to isobutyrylglycine

Numerator Metabolite

Structure of histidine
Metabolite Accession: GCST90200377
Name: histidine
Hmdb Id: HMDB0000177
Super Pathway: NA
Sub Pathway: NA
Inchikey: HNDVDQJCIGZPNO

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):
-0.320
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-14.216
Reference Allele:
C
-log10(P):
-103.926
MAF:
0.310
Beta (Num):
-0.094
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:

Histidine metabolism, Histamine biosynthesis.5[1], 6[2], 7[3], 8[4]

Denominator Metabolite Explanation:

Valine catabolism, Fatty acid metabolism.9[1], 10[2], 11[3]

Ratio Explanation:

An elevated ratio may indicate disrupted nitrogen disposal via the urea cycle (CPS1) and altered branched-chain amino acid metabolism, impacting renal and biliary function.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired CPS1 function can lead to hyperammonemia, affecting liver and kidney function and contributing to the pathophysiology of cholelithiasis and chronic kidney disease.12[1], 13[2], 14[3], 15[4], 16[5], 17[6], 18[7], 19[8], 20[9], 21[10], 22[11], 23[12], 24[13], 25[14]

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