hexanoylglycine to homoarginine

Numerator Metabolite

Structure of hexanoylglycine
Metabolite Accession: GCST90199781
Name: hexanoylglycine
Hmdb Id: HMDB0000701
Super Pathway: NA
Sub Pathway: NA
Inchikey: UPCKIPHSXMXJOX

Denominator Metabolite

Structure of homoarginine
Metabolite Accession: GCST90199675
Name: homoarginine
Hmdb Id: HMDB0000670
Super Pathway: NA
Sub Pathway: NA
Inchikey: QUOGESRFPZDMMT

Associated Genomic Regions

Region: rs1047891

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Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
0.593
Position:
211540507
SE (Ratio):
0.027
Effect Allele:
A
Z-score (Ratio):
22.365
Reference Allele:
C
-log10(P):
-253.439
MAF:
0.333
Beta (Num):
0.326
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.267
SE (Den):
0.015
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism, xenobiotic detoxification.7[1]

Denominator Metabolite Explanation:

Arginine and lysine metabolism, Nitric oxide pathway.8[1], 9[2]

Ratio Explanation:

An elevated ratio of hexanoylglycine to homoarginine may reflect both impaired fatty acid oxidation and altered urea cycle function, as CPS1 variants are associated with homoarginine levels.10[1], 7[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function can lead to hyperammonemia and impact homoarginine levels, a metabolite synthesized in the kidneys and linked to renal function.11[1], 12[2], 10[3], 13[4] This metabolic disruption, along with potential downstream effects, contributes to the observed phenotypes of cholelithiasis and renal failure.11[5], 14[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