hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1-lignoceroyl-gpc (24:0)

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: GCST90199895
Name: 1-lignoceroyl-gpc (24:0)
Hmdb Id: HMDB0010405
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174536

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):
0.405
Position:
61551927
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
21.806
Reference Allele:
A
-log10(P):
-241.065
MAF:
0.341
Beta (Num):
0.276
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.129
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Glycerophospholipid metabolism.7[1], 8[2]

Ratio Explanation:

This ratio may reflect the activity of FADS1, where altered desaturation of fatty acids impacts the composition of both sphingolipids and glycerophospholipids.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered FADS1 activity, indicated by the metabolite ratio, affects lipid metabolism, which is a known factor in 'Disorders of lipoprotein metabolism' and 'Cholelithiasis'.1[1], 9[2], 10[3], 11[4] Genetic variants in FADS1 are associated with these conditions and altered lipid levels.1[5], 10[6], 11[7]

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