3-hydroxybutyroylglycine** to homoarginine

Numerator Metabolite

Metabolite Accession: GCST90200174
Name: 3-hydroxybutyroylglycine**
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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

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):
0.591
Position:
211540507
SE (Ratio):
0.025
Effect Allele:
A
Z-score (Ratio):
23.482
Reference Allele:
C
-log10(P):
-279.086
MAF:
0.310
Beta (Num):
0.324
Novel Locus:
No
SE (Num):
0.015
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.8[1], 9[2]

Denominator Metabolite Explanation:

Urea cycle, nitric oxide metabolism.11[1], 12[2], 13[3], 14[4], 15[5]

Ratio Explanation:

The ratio may reflect an imbalance between fatty acid oxidation and urea cycle function, potentially influenced by CPS1 activity on nitrogen metabolism.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired CPS1 function can lead to hyperammonemia and altered nitrogen metabolism, contributing to renal dysfunction and cholelithiasis, with the metabolite ratio reflecting this systemic metabolic disturbance.17[1], 18[2], 19[3], 20[4], 21[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