2r,3r-dihydroxybutyrate to isovalerylglycine

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 isovalerylglycine
Metabolite Accession: GCST90199785
Name: isovalerylglycine
Hmdb Id: HMDB00678
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZRQXMKMBBMNNQC

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):
-0.372
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-16.149
Reference Allele:
C
-log10(P):
-133.400
MAF:
0.310
Beta (Num):
-0.152
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.219
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 metabolism4[1]

Denominator Metabolite Explanation:

Leucine catabolism, Glycine conjugation5[1], 6[2], 7[3]

Ratio Explanation:

An elevated ratio suggests a shift in amino acid metabolism, potentially indicating impaired nitrogen disposal (CPS1 function) relative to leucine breakdown and glycine conjugation.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function can lead to hyperammonemia and downstream metabolic disturbances.8[1], 9[2] This, combined with altered amino acid metabolism reflected in the ratio, may contribute to the increased risk of renal failure and cholelithiasis, possibly through shared pathways of nitrogen and bile acid metabolism.10[3], 11[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