hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1-arachidonoyl-gpe (20:4n6)*

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-arachidonoyl-gpe (20:4n6)*
Metabolite Accession: GCST90199791
Name: 1-arachidonoyl-gpe (20:4n6)*
Hmdb Id: HMDB0011517
Super Pathway: NA
Sub Pathway: NA
Inchikey: ROPRRXYVXLDXQO

Associated Genomic Regions

Region: rs99780

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):
0.647
Position:
61596633
SE (Ratio):
0.025
Effect Allele:
T
Z-score (Ratio):
26.353
Reference Allele:
C
-log10(P):
-350.747
MAF:
0.346
Beta (Num):
0.277
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.370
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 metabolism4[1], 5[2], 6[3], 7[4]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, Fatty acid metabolism8[1], 9[2], 10[3]

Ratio Explanation:

The ratio reflects the balance between sphingolipid and polyunsaturated fatty acid metabolism, where FADS1 activity influences the denominator, 1-arachidonoyl-GPE (a downstream product).11[1]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/FADS2 are associated with altered levels of both metabolites.12[1], 13[2], 14[3], 15[4] Dysregulation of FADS1, which produces the precursor for the denominator, is linked to inflammatory conditions and disorders of lipoprotein metabolism, aligning with observed phenotypes like cholelithiasis and hypercholesterolemia.16[5], 2[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