hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to linoleoyl-arachidonoyl-glycerol (18:2/20:4) [1]*

Numerator Metabolite

Metabolite Accession: GCST90200243
Name: hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))**
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of linoleoyl-arachidonoyl-glycerol (18:2/20:4) [1]*
Metabolite Accession: GCST90200103
Name: linoleoyl-arachidonoyl-glycerol (18:2/20:4) [1]*
Hmdb Id: HMDB0007257
Super Pathway: NA
Sub Pathway: NA
Inchikey: KRECEGQUDDMNAQ

Associated Genomic Regions

Region: rs174564

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):
0.593
Position:
61588305
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
22.534
Reference Allele:
A
-log10(P):
-257.226
MAF:
0.344
Beta (Num):
0.277
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.316
SE (Den):
0.017
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Endocannabinoid/Glycerolipid metabolism.8[1], 9[2], 10[3]

Ratio Explanation:

The ratio reflects the balance between sphingolipid metabolism and polyunsaturated fatty acid (PUFA) synthesis, with FADS gene activity directly influencing the denominator's arachidonic acid component.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in the FADS1/FADS2 cluster alters polyunsaturated fatty acid metabolism, which is a key driver of lipid and inflammatory pathway dysregulation seen in phenotypes like cholelithiasis, hypercholesterolemia, and asthma.11[1], 12[2], 13[3], 14[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