butyrylglycine to threonine

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 threonine
Metabolite Accession: GCST90200432
Name: threonine
Hmdb Id: HMDB0000167
Super Pathway: NA
Sub Pathway: NA
Inchikey: AYFVYJQAPQTCCC

Associated Genomic Regions

Region: rs1047891

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
2
Beta (Ratio):
0.420
Position:
211540507
SE (Ratio):
0.025
Effect Allele:
A
Z-score (Ratio):
16.771
Reference Allele:
C
-log10(P):
-143.675
MAF:
0.323
Beta (Num):
0.297
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.123
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 metabolism7[1], 8[2], 9[3]

Denominator Metabolite Explanation:

Amino acid metabolism, Protein synthesis10[1], 11[2], 12[3]

Ratio Explanation:

An elevated butyrylglycine to threonine ratio may indicate altered mitochondrial fatty acid oxidation (ACADL) and impaired nitrogen clearance (CPS1), impacting amino acid homeostasis.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Variants in CPS1 and ACADL can disrupt mitochondrial function, affecting both urea cycle activity and fatty acid oxidation. This dysfunction may lead to altered amino acid levels and fatty acid metabolites, potentially contributing to the development of cholelithiasis and chronic kidney disease, which are associated with metabolic disturbances.13[1], 14[2], 15[3], 16[4], 17[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