propionylglycine to 2r,3r-dihydroxybutyrate

Numerator Metabolite

Structure of propionylglycine
Metabolite Accession: GCST90199705
Name: propionylglycine
Hmdb Id: HMDB0000783
Super Pathway: NA
Sub Pathway: NA
Inchikey: WOMAZEJKVZLLFE

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

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Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
0.511
Position:
211540507
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
21.547
Reference Allele:
C
-log10(P):
-235.443
MAF:
0.321
Beta (Num):
0.359
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:

Propionate metabolism, fatty acid metabolism.4[1], 5[2], 6[3], 7[4]

Denominator Metabolite Explanation:

Threonine metabolism.8[1]

Ratio Explanation:

An elevated propionylglycine to 2R,3R-dihydroxybutyrate ratio could indicate increased propionyl-CoA production from amino acid/odd-chain fatty acid breakdown relative to threonine catabolism.8[1], 4[2], 5[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Defective CPS1 can cause hyperammonemia, disrupting multiple metabolic pathways and leading to renal and liver dysfunction, manifesting as renal failure and cholelithiasis.1[1], 9[2], 10[3], 11[4] This metabolic derangement is reflected by the altered propionylglycine to 2R,3R-dihydroxybutyrate ratio, linking the genetic defect to the phenotype.12[5], 13[6]

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