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

Numerator Metabolite

Metabolite Accession: GCST90200013
Name: sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of sphingomyelin (d18:2/24:2)*
Metabolite Accession: GCST90200124
Name: sphingomyelin (d18:2/24:2)*
Hmdb Id: HMDB0240644
Super Pathway: NA
Sub Pathway: NA
Inchikey: LAWJSGKLPKMOGG

Associated Genomic Regions

Region: rs174555

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.081
Position:
61579760
SE (Ratio):
0.009
Effect Allele:
C
Z-score (Ratio):
8.568
Reference Allele:
T
-log10(P):
-39.096
MAF:
0.303
Beta (Num):
0.073
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
-0.008
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

Region: rs7157785

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Clumped rQTL variant

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SNP Summary

Chr:
14
Beta (Ratio):
0.200
Position:
64235556
SE (Ratio):
0.012
Effect Allele:
T
Z-score (Ratio):
17.375
Reference Allele:
G
-log10(P):
-154.027
MAF:
0.167
Beta (Num):
0.221
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
0.021
SE (Den):
0.019
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

Region: rs364585

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Clumped rQTL variant

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SNP Summary

Chr:
20
Beta (Ratio):
0.148
Position:
12962718
SE (Ratio):
0.009
Effect Allele:
A
Z-score (Ratio):
16.589
Reference Allele:
G
-log10(P):
-140.640
MAF:
0.384
Beta (Num):
0.119
Novel Locus:
No
SE (Num):
0.014
Beta (Den):
-0.029
SE (Den):
0.014
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 reflects fatty acid desaturase activity, particularly FADS1/FADS2, which determines the specific fatty acid chains incorporated into different sphingomyelin species.5[1], 6[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1 alter desaturase activity, affecting sphingomyelin composition. This change in lipid profile is associated with cholelithiasis and disorders of lipoprotein metabolism, likely by impacting membrane function and inflammatory signaling.4[1], 7[2], 8[3]

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