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

Numerator Metabolite

Structure of sphingomyelin (d18:1/18:1, d18:2/18:0)
Metabolite Accession: GCST90199878
Name: sphingomyelin (d18:1/18:1, d18:2/18:0)
Hmdb Id: HMDB0012101
Super Pathway: NA
Sub Pathway: NA
Inchikey: NBEADXWAAWCCDG

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: rs174549

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):
-0.290
Position:
61571382
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-12.798
Reference Allele:
G
-log10(P):
-84.682
MAF:
0.304
Beta (Num):
-0.123
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.167
SE (Den):
0.017
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Ether lipid (plasmalogen) metabolism.7[1], 8[2], 9[3]

Ratio Explanation:

This ratio may reflect FADS1 activity, which influences the availability of polyunsaturated fatty acids for incorporation into both sphingolipids and plasmalogens, affecting their balance.10[1], 11[2], 12[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1 alters PUFA synthesis, impacting the composition of membrane lipids like sphingomyelins and plasmalogens.13[1], 11[2], 14[3] This dysregulation of lipid metabolism and inflammatory precursors contributes to phenotypes such as hypercholesterolemia, cholelithiasis, and asthma.3[4], 15[5], 16[6]

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