2r,3r-dihydroxybutyrate to hexanoylglycine

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 hexanoylglycine
Metabolite Accession: GCST90199781
Name: hexanoylglycine
Hmdb Id: HMDB0000701
Super Pathway: NA
Sub Pathway: NA
Inchikey: UPCKIPHSXMXJOX

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):
-0.478
Position:
211540507
SE (Ratio):
0.026
Effect Allele:
A
Z-score (Ratio):
-18.158
Reference Allele:
C
-log10(P):
-167.977
MAF:
0.310
Beta (Num):
-0.152
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.326
SE (Den):
0.019
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Threonine metabolism.4[1]

Denominator Metabolite Explanation:

Fatty acid metabolism, beta-oxidation.5[1], 6[2]

Ratio Explanation:

Elevated ratio may indicate impaired fatty acid oxidation (increasing hexanoylglycine) alongside altered threonine metabolism, but a direct link through a single gene is not established.

Ratio Evidence:

metabolites unrelated

Gene Ratio Phenotype Relationship:

Altered CPS1 function is linked to hyperammonemia and associated renal and biliary pathologies.7[1], 8[2] The ratio reflects broad metabolic disruption, but the direct causal link is unclear.

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