palmitoyl sphingomyelin (d18:1/16:0) to sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*

Numerator Metabolite

Structure of palmitoyl sphingomyelin (d18:1/16:0)
Metabolite Accession: GCST90199876
Name: palmitoyl sphingomyelin (d18:1/16:0)
Hmdb Id: HMDB0010169
Super Pathway: NA
Sub Pathway: NA
Inchikey: RWKUXQNLWDTSLO

Denominator Metabolite

Structure of sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Metabolite Accession: GCST90200010
Name: sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Hmdb Id: HMDB0012104
Super Pathway: NA
Sub Pathway: NA
Inchikey: VBFKEZGCUWHGSK

Associated Genomic Regions

Region: rs174554

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.125
Position:
61579463
SE (Ratio):
0.013
Effect Allele:
G
Z-score (Ratio):
9.535
Reference Allele:
A
-log10(P):
-47.954
MAF:
0.338
Beta (Num):
0.026
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.100
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

Region: rs4814175

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):
-0.107
Position:
12959094
SE (Ratio):
0.013
Effect Allele:
A
Z-score (Ratio):
-8.338
Reference Allele:
T
-log10(P):
-37.121
MAF:
0.387
Beta (Num):
-0.024
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.083
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:

Sphingolipid metabolism/synthesis.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism/synthesis.5[1], 8[2], 9[3]

Ratio Explanation:

This ratio reflects the balance of fatty acids incorporated into sphingomyelins, which is modulated by FADS1/FADS2 activity on fatty acid precursors.10[1]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered FADS1 activity changes sphingomyelin fatty acid composition, affecting membrane properties. This dysregulation of lipid metabolism is linked to inflammation and metabolic disorders like hypercholesterolemia, inflammatory bowel disease, and asthma, which are observed in the associated phenotypes.2[1], 11[2], 12[3], 13[4]

Phenotype Driver:

Gene-centric:FADS1

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