sphingomyelin (d18:1/24:1, d18:2/24:0)* to glycosyl-n-stearoyl-sphingosine (d18:1/18:0)

Numerator Metabolite

Structure of sphingomyelin (d18:1/24:1, d18:2/24:0)*
Metabolite Accession: GCST90199972
Name: sphingomyelin (d18:1/24:1, d18:2/24:0)*
Hmdb Id: HMDB0012107
Super Pathway: NA
Sub Pathway: NA
Inchikey: WKZHECFHXLTOLJ

Denominator Metabolite

Metabolite Accession: GCST90199846
Name: glycosyl-n-stearoyl-sphingosine (d18:1/18:0)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1871194

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:
19
Beta (Ratio):
0.166
Position:
8283819
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
9.340
Reference Allele:
A
-log10(P):
-46.089
MAF:
0.461
Beta (Num):
0.051
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.115
SE (Den):
0.016
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism.7[1], 8[2], 9[3]

Ratio Explanation:

Increased ratio of sphingomyelin to glycosyl-n-stearoyl-sphingosine suggests reduced CERS4 activity, shunting ceramide precursors away from the synthesis of C18:0-containing sphingolipids towards other species.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced CERS4 expression alters sphingolipid balance, impacting pathways related to inflammation and cell signaling. This metabolic dysregulation is associated with both gout, a disease of uric acid metabolism, and polyneuropathies, potentially through shared inflammatory mechanisms or direct effects of altered lipid profiles on neuronal health.10[1], 11[2], 12[3], 13[4]

Phenotype Driver:

Metabolite-centric[both]

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