hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to eicosapentaenoate (epa; 20:5n3)

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 eicosapentaenoate (epa; 20:5n3)
Metabolite Accession: GCST90200349
Name: eicosapentaenoate (epa; 20:5n3)
Hmdb Id: HMDB0001999
Super Pathway: NA
Sub Pathway: NA
Inchikey: JAZBEHYOTPTENJ

Associated Genomic Regions

Region: rs174546

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):
0.484
Position:
61569830
SE (Ratio):
0.022
Effect Allele:
T
Z-score (Ratio):
21.694
Reference Allele:
C
-log10(P):
-238.618
MAF:
0.340
Beta (Num):
0.279
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.205
SE (Den):
0.016
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]

Denominator Metabolite Explanation:

Fatty acid biosynthesis and metabolism.6[1], 7[2]

Ratio Explanation:

The ratio reflects the balance between sphingolipid and polyunsaturated fatty acid synthesis, modulated by FADS1/FADS2 activity which is essential for producing precursors for both pathways.1[1], 2[2], 4[3], 8[4]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters the balance of pro-inflammatory and anti-inflammatory lipid mediators, which can impact cholesterol metabolism and inflammatory responses, contributing to the development of cholelithiasis and hypercholesterolemia.9[1], 10[2], 11[3], 12[4]

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