2r,3r-dihydroxybutyrate to isobutyrylglycine

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 isobutyrylglycine
Metabolite Accession: GCST90199798
Name: isobutyrylglycine
Hmdb Id: HMDB0000730
Super Pathway: NA
Sub Pathway: NA
Inchikey: DCICDMMXFIELDF

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):
-0.379
Position:
211540507
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-16.897
Reference Allele:
C
-log10(P):
-145.811
MAF:
0.310
Beta (Num):
-0.152
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.226
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:

Threonine metabolism.5[1]

Denominator Metabolite Explanation:

Valine, isoleucine, and fatty acid metabolism.6[1], 7[2], 8[3]

Ratio Explanation:

An elevated ratio may indicate altered ammonia detoxification via CPS1, potentially impacting amino acid and fatty acid metabolism, though the direct relationship is unclear.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

The CPS1 missense variant may alter urea cycle function, leading to disruptions in nitrogen and amino acid metabolism. This systemic metabolic disturbance could contribute to the pathogenesis of complex diseases like cholelithiasis and renal failure, which are associated with metabolic imbalances.9[1], 10[2], 11[3], 12[4]

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