2r,3r-dihydroxybutyrate to 2-butenoylglycine

Numerator Metabolite

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

Denominator Metabolite

Structure of 2-butenoylglycine
Metabolite Accession: GCST90200152
Name: 2-butenoylglycine
Hmdb Id: HMDB0341232
Super Pathway: NA
Sub Pathway: NA
Inchikey: WWJXRJJBIVSSNF

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):
-0.414
Position:
211540507
SE (Ratio):
0.026
Effect Allele:
A
Z-score (Ratio):
-16.149
Reference Allele:
C
-log10(P):
-133.409
MAF:
0.310
Beta (Num):
-0.152
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.262
SE (Den):
0.018
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Threonine and ketone body metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.

Ratio Explanation:

The ratio may reflect mitochondrial stress, linking impaired fatty acid oxidation (denominator) to altered amino acid or ketone metabolism (numerator) due to CPS1 dysfunction.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired CPS1 function, indicated by the missense variant, can cause mitochondrial stress that alters systemic metabolism, reflected by the ratio, contributing to renal failure and cholelithiasis.6[1], 7[2], 8[3]

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