cinnamoylglycine to 2r,3r-dihydroxybutyrate

Numerator Metabolite

Structure of cinnamoylglycine
Metabolite Accession: GCST90199888
Name: cinnamoylglycine
Hmdb Id: HMDB0011621
Super Pathway: NA
Sub Pathway: NA
Inchikey: YAADMLWHGMUGQL

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):
0.361
Position:
211540507
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
14.731
Reference Allele:
C
-log10(P):
-111.415
MAF:
0.312
Beta (Num):
0.208
Novel Locus:
No
SE (Num):
0.017
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:

Xenobiotic metabolism, Acylglycine metabolism.5[1], 6[2]

Denominator Metabolite Explanation:

Threonine metabolism, Fatty acid metabolism.7[1]

Ratio Explanation:

Impaired CPS1 function leads to systemic metabolic disruption, potentially altering acyl-CoA and glycine pools, thus impacting levels of both cinnamoylglycine and 2R,3R-dihydroxybutyrate.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

A CPS1 missense variant impairs urea cycle function, leading to hyperammonemia and systemic metabolic stress. This dysfunction, reflected by the altered metabolite ratio, likely drives the associated phenotypes of renal failure and cholelithiasis through nitrogen toxicity and broad metabolic disruption.8[1], 9[2], 4[3], 10[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