sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)* to 1-(1-enyl-stearoyl)-2-linoleoyl-gpe (p-18:0/18:2)*

Numerator Metabolite

Metabolite Accession: GCST90200033
Name: sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-(1-enyl-stearoyl)-2-linoleoyl-gpe (p-18:0/18:2)*
Metabolite Accession: GCST90200076
Name: 1-(1-enyl-stearoyl)-2-linoleoyl-gpe (p-18:0/18:2)*
Hmdb Id: HMDB0011376
Super Pathway: NA
Sub Pathway: NA
Inchikey: XVXISDREVDGQPX

Associated Genomic Regions

Region: rs174580

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
-0.239
Position:
61606642
SE (Ratio):
0.018
Effect Allele:
G
Z-score (Ratio):
-13.083
Reference Allele:
A
-log10(P):
-88.387
MAF:
0.350
Beta (Num):
-0.073
Novel Locus:
No
SE (Num):
0.014
Beta (Den):
0.166
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FADS3 FEN1 TMEM258

Region: rs7412

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.320
Position:
45412079
SE (Ratio):
0.031
Effect Allele:
T
Z-score (Ratio):
-10.181
Reference Allele:
C
-log10(P):
-54.377
MAF:
0.084
Beta (Num):
-0.102
Novel Locus:
No
SE (Num):
0.025
Beta (Den):
0.218
SE (Den):
0.028
No CNV overlap
rQTL cluster:
8
Reaction Distance:
NA
Closest Genes:
APOE TOMM40 APOC1 PVRL2 APOC4

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Plasmalogen metabolism.6[1], 7[2], 8[3]

Ratio Explanation:

The ratio reflects the balance between sphingolipid and plasmalogen synthesis, both critical membrane components where altered levels are linked to cardiovascular and metabolic diseases.4[1], 9[2], 7[3], 10[4]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1 and APOE influence lipid and lipoprotein metabolism, affecting the balance of sphingomyelins and plasmalogens.1[1], 11[2], 3[3], 12[4] This imbalance is associated with obesity, dyslipidemia, and cardiovascular diseases, likely through modulation of inflammation and lipoprotein particle composition.2[5], 13[6], 9[7], 14[8], 15[9]

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