butyrylglycine to 2r,3r-dihydroxybutyrate

Numerator Metabolite

Structure of butyrylglycine
Metabolite Accession: GCST90199706
Name: butyrylglycine
Hmdb Id: HMDB0000808
Super Pathway: NA
Sub Pathway: NA
Inchikey: WPSSBBPLVMTKRN

Denominator Metabolite

Structure of 2r,3r-dihydroxybutyrate
Metabolite Accession: GCST90199889
Name: 2r,3r-dihydroxybutyrate
Hmdb Id: HMDB0000498
Super Pathway: NA
Sub Pathway: NA
Inchikey: LOUGYXZSURQALL

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):
0.450
Position:
211540507
SE (Ratio):
0.025
Effect Allele:
A
Z-score (Ratio):
18.035
Reference Allele:
C
-log10(P):
-165.748
MAF:
0.323
Beta (Num):
0.297
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.152
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:

Fatty acid metabolism, Glycine conjugation.4[1]

Denominator Metabolite Explanation:

Threonine catabolism, Polysaccharide degradation.5[1], 6[2]

Ratio Explanation:

The ratio links incomplete fatty acid oxidation (butyrylglycine) to carbohydrate metabolism, potentially mediated by ACADL activity which influences substrate availability for both pathways.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced ACADL function impairs fatty acid oxidation, leading to the accumulation of metabolites like butyrylglycine, which is associated with renal dysfunction and cholelithiasis.1[1], 7[2], 8[3] This metabolic disruption, rather than CPS1's primary role in the urea cycle, likely drives the observed phenotypes.9[4], 10[5]

Phenotype Driver:

Gene-centric:ACADL

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