sphingomyelin (d18:2/14:0, d18:1/14:1)* to 1-(1-enyl-palmitoyl)-2-linoleoyl-gpe (p-16:0/18:2)*

Numerator Metabolite

Metabolite Accession: GCST90199975
Name: sphingomyelin (d18:2/14:0, d18:1/14:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-(1-enyl-palmitoyl)-2-linoleoyl-gpe (p-16:0/18:2)*
Metabolite Accession: GCST90200075
Name: 1-(1-enyl-palmitoyl)-2-linoleoyl-gpe (p-16:0/18:2)*
Hmdb Id: HMDB0011343
Super Pathway: NA
Sub Pathway: NA
Inchikey: LJVXDBWIBQQKFU

Associated Genomic Regions

Region: rs174580

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:
11
Beta (Ratio):
-0.260
Position:
61606642
SE (Ratio):
0.019
Effect Allele:
G
Z-score (Ratio):
-13.353
Reference Allele:
A
-log10(P):
-91.979
MAF:
0.351
Beta (Num):
-0.089
Novel Locus:
No
SE (Num):
0.013
Beta (Den):
0.171
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FADS3 FEN1 TMEM258

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Plasmalogen metabolism.9[1], 10[2], 11[3]

Ratio Explanation:

The ratio reflects the balance between sphingolipid and plasmalogen synthesis, both influenced by FADS-mediated polyunsaturated fatty acid availability.12[1], 13[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1/FADS2 variants alter polyunsaturated fatty acid metabolism, influencing the composition of complex lipids like sphingomyelins and plasmalogens.14[1], 15[2], 16[3], 17[4], 13[5] This dysregulation is associated with an increased risk for disorders of lipoprotein metabolism, cholelithiasis, and asthma.14[6], 15[7], 16[8], 17[9], 18[10], 19[11]

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