hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1-(1-enyl-stearoyl)-gpe (p-18:0)*

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

Metabolite Accession: GCST90199910
Name: 1-(1-enyl-stearoyl)-gpe (p-18:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174564

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
11
Beta (Ratio):
0.389
Position:
61588305
SE (Ratio):
0.020
Effect Allele:
G
Z-score (Ratio):
19.827
Reference Allele:
A
-log10(P):
-199.769
MAF:
0.344
Beta (Num):
0.277
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.112
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], 8[4], 9[5]

Denominator Metabolite Explanation:

Ether lipid metabolism.10[1], 11[2], 12[3], 13[4]

Ratio Explanation:

A higher ratio may indicate altered FADS1 activity, impacting the balance between sphingolipid and ether lipid synthesis, both crucial for membrane structure and signaling.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1 variants influence fatty acid composition, affecting sphingolipid and ether lipid profiles.14[1], 15[2], 16[3] This dysregulation is linked to altered lipoprotein metabolism via APOE/APOC1 and an increased risk of cholelithiasis and cardiovascular diseases.17[4], 18[5], 19[6], 20[7], 21[8]

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