hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1-palmitoyl-2-docosahexaenoyl-gpc (16:0/22:6)

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-palmitoyl-2-docosahexaenoyl-gpc (16:0/22:6)
Metabolite Accession: GCST90200043
Name: 1-palmitoyl-2-docosahexaenoyl-gpc (16:0/22:6)
Hmdb Id: HMDB0007991
Super Pathway: NA
Sub Pathway: NA
Inchikey: IESVDEZGAHUQJU

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):
0.444
Position:
61569830
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
20.882
Reference Allele:
C
-log10(P):
-221.288
MAF:
0.340
Beta (Num):
0.279
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.166
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:

Glycerophospholipid metabolism, Fatty acid metabolism.6[1], 7[2]

Ratio Explanation:

The ratio reflects the balance between sphingolipid and glycerophospholipid synthesis, which is influenced by FADS desaturase activity on fatty acid precursors.8[1], 9[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1/FADS2 variants alter enzyme activity, impacting the balance of pro-inflammatory and anti-inflammatory lipids derived from polyunsaturated fatty acids.3[1], 10[2] This dysregulation of lipid mediators is linked to an increased risk for hypercholesterolemia and other cardiometabolic phenotypes.3[3], 11[4], 12[5], 13[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