hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to sphingomyelin (d17:2/16:0, d18:2/15:0)*

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: GCST90200125
Name: sphingomyelin (d17:2/16:0, d18:2/15:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174568

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):
0.353
Position:
61593816
SE (Ratio):
0.017
Effect Allele:
T
Z-score (Ratio):
20.665
Reference Allele:
C
-log10(P):
-216.779
MAF:
0.339
Beta (Num):
0.281
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.071
SE (Den):
0.014
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.3[1], 4[2]

Denominator Metabolite Explanation:

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

Ratio Explanation:

This ratio reflects the balance between hydroxylated sphingomyelins and more unsaturated sphingomyelin species, a balance influenced by FADS1's role in fatty acid desaturation.5[1], 6[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered FADS1 activity, indicated by the eQTL and reflected in the sphingomyelin ratio, dysregulates fatty acid metabolism.7[1], 8[2] This contributes to inflammatory and metabolic phenotypes like cholelithiasis, hypercholesterolaemia, and inflammatory bowel disease, which are strongly associated with FADS1 function.9[3], 10[4], 11[5], 12[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