sphingomyelin (d18:2/21:0, d16:2/23:0)* to sphingomyelin (d18:1/19:0, d19:1/18:0)*

Numerator Metabolite

Metabolite Accession: GCST90200129
Name: sphingomyelin (d18:2/21:0, d16:2/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200131
Name: sphingomyelin (d18:1/19:0, d19:1/18:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174561

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
-0.084
Position:
61582708
SE (Ratio):
0.009
Effect Allele:
C
Z-score (Ratio):
-9.341
Reference Allele:
T
-log10(P):
-46.102
MAF:
0.302
Beta (Num):
-0.096
Novel Locus:
No
SE (Num):
0.014
Beta (Den):
-0.012
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

Region: rs364585

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Clumped rQTL variant

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SNP Summary

Chr:
20
Beta (Ratio):
-0.135
Position:
12962718
SE (Ratio):
0.008
Effect Allele:
A
Z-score (Ratio):
-16.041
Reference Allele:
G
-log10(P):
-131.656
MAF:
0.385
Beta (Num):
0.065
Novel Locus:
No
SE (Num):
0.013
Beta (Den):
0.199
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

Denominator Metabolite Explanation:

Sphingolipid metabolism

Ratio Explanation:

This ratio likely reflects FADS1 enzyme activity, where the enzyme converts the mono-unsaturated d18:1 sphingomyelin precursor to the di-unsaturated d18:2 sphingomyelin product.

Ratio Evidence:

canonical reaction catalyzed by the enzyme

Gene Ratio Phenotype Relationship:

Altered FADS1 activity, reflected by the sphingomyelin ratio, impacts downstream polyunsaturated fatty acids that are crucial for regulating inflammation and lipid levels. This explains the link to phenotypes like asthma, various dermatitis forms, and disorders of lipoprotein metabolism.3[1], 4[2], 5[3], 6[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