hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1-arachidonylglycerol (20:4)

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 1-arachidonylglycerol (20:4)
Metabolite Accession: GCST90199770
Name: 1-arachidonylglycerol (20:4)
Hmdb Id: HMDB0011578
Super Pathway: NA
Sub Pathway: NA
Inchikey: DCPCOKIYJYGMDN

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):
0.547
Position:
61588305
SE (Ratio):
0.024
Effect Allele:
G
Z-score (Ratio):
22.739
Reference Allele:
A
-log10(P):
-261.891
MAF:
0.344
Beta (Num):
0.277
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.271
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Endocannabinoid/Arachidonic acid metabolism.8[1], 9[2], 10[3], 11[4], 12[5]

Ratio Explanation:

The ratio reflects FADS enzyme activity; lower activity decreases the denominator (arachidonic acid-derived) and increases saturated fatty acids, potentially altering the numerator composition.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters polyunsaturated fatty acid synthesis, reflected by the ratio.1[1], 13[2] This dysregulation of lipid mediators contributes to inflammatory (asthma) and metabolic phenotypes (Type 2 diabetes, cholelithiasis, hypercholesterolemia) that are strongly associated with FADS function.14[3], 15[4], 16[5], 17[6]

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