2r,3r-dihydroxybutyrate to glycosyl-n-(2-hydroxynervonoyl)-sphingosine (d18:1/24:1(2oh))*

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

Metabolite Accession: GCST90200117
Name: glycosyl-n-(2-hydroxynervonoyl)-sphingosine (d18:1/24:1(2oh))*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
-0.260
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-11.423
Reference Allele:
C
-log10(P):
-67.913
MAF:
0.310
Beta (Num):
-0.152
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.108
SE (Den):
0.016
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Fatty Acid Metabolism, Dihydroxy5[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism6[1], 7[2], 8[3], 9[4], 10[5], 11[6]

Ratio Explanation:

The ratio links ammonia detoxification via the urea cycle (CPS1) to sphingolipid metabolism, but a direct functional relationship is not established.

Ratio Evidence:

metabolites unrelated

Gene Ratio Phenotype Relationship:

The CPS1 gene's role in the urea cycle is critical for ammonia detoxification; mutations can lead to hyperammonemia, causing neurological damage.12[1], 13[2], 14[3], 15[4] The associated phenotypes, renal failure and cholelithiasis, are linked to impaired waste excretion and metabolic disturbances, potentially exacerbated by CPS1 dysfunction.

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