glycosyl-n-(2-hydroxynervonoyl)-sphingosine (d18:1/24:1(2oh))* to glutarylcarnitine (c5-dc)

Numerator 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

Denominator Metabolite

Structure of glutarylcarnitine (c5-dc)
Metabolite Accession: GCST90199799
Name: glutarylcarnitine (c5-dc)
Hmdb Id: HMDB0013130
Super Pathway: NA
Sub Pathway: NA
Inchikey: NXJAXUYOQLTISD

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):
0.210
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
9.176
Reference Allele:
C
-log10(P):
-44.556
MAF:
0.311
Beta (Num):
0.108
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.102
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:

Sphingolipid metabolism.3[1]

Denominator Metabolite Explanation:

Amino acid degradation (lysine, tryptophan).4[1], 5[2]

Ratio Explanation:

A direct mechanistic link is not established; the ratio may reflect broad metabolic disruption where impaired CPS1-mediated nitrogen metabolism is associated with altered downstream metabolic pathways.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Defective CPS1 impairs ammonia detoxification, leading to hyperammonemia, which is known to cause renal and hepatic stress.6[1], 7[2], 8[3] This systemic toxicity can precipitate chronic kidney disease and, by altering liver function and bile composition, may promote cholelithiasis.9[4], 10[5]

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