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

Numerator Metabolite

Structure of n-stearoyl-sphingosine (d18:1/18:0)*
Metabolite Accession: GCST90200341
Name: n-stearoyl-sphingosine (d18:1/18:0)*
Hmdb Id: HMDB0004950
Super Pathway: NA
Sub Pathway: NA
Inchikey: VODZWWMEJITOND

Denominator Metabolite

Structure of sphingomyelin (d18:1/18:1, d18:2/18:0)
Metabolite Accession: GCST90199878
Name: sphingomyelin (d18:1/18:1, d18:2/18:0)
Hmdb Id: HMDB0012101
Super Pathway: NA
Sub Pathway: NA
Inchikey: NBEADXWAAWCCDG

Associated Genomic Regions

Region: rs364585

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:
20
Beta (Ratio):
0.149
Position:
12962718
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
10.761
Reference Allele:
G
-log10(P):
-60.505
MAF:
0.384
Beta (Num):
0.117
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.032
SE (Den):
0.015
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

Ceramide biosynthesis3[1], 4[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism5[1], 6[2]

Ratio Explanation:

The ratio reflects the conversion of ceramide (numerator) to sphingomyelin (denominator), where lower FADS activity may alter membrane composition and signaling, influencing lipid metabolism.1[1], 5[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered FADS1/FADS2 activity influences the balance of specific ceramides and sphingomyelins, impacting lipid metabolism and inflammation, which contributes to cholelithiasis and hypercholesterolemia.1[1], 7[2], 8[3], 9[4], 10[5]

Phenotype Driver:

Gene-centric:FADS1/FADS2

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