histidine to glycocholenate sulfate*

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 glycocholenate sulfate*
Metabolite Accession: GCST90199841
Name: glycocholenate sulfate*
Hmdb Id: HMDB0242178
Super Pathway: NA
Sub Pathway: NA
Inchikey: OTUHTIDAACSDJD

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):
-0.186
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-8.157
Reference Allele:
C
-log10(P):
-35.608
MAF:
0.310
Beta (Num):
-0.094
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
0.092
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 degradation, Amino acid metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Secondary bile acid metabolism.7[1]

Ratio Explanation:

An elevated ratio of histidine to glycocholenate sulfate may reflect CPS1 dysfunction, leading to impaired nitrogen clearance and potentially altered bile acid metabolism.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

A missense variant in CPS1 could impair urea cycle function, leading to increased histidine and altered glycocholenate sulfate levels, potentially contributing to cholelithiasis and renal dysfunction due to metabolic and detoxification pathway disturbances.8[1], 9[2], 10[3], 11[4]

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