hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to sphingomyelin (d18:2/14:0, d18:1/14:1)*

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: GCST90199975
Name: sphingomyelin (d18:2/14:0, d18:1/14:1)*
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):
0.366
Position:
61593816
SE (Ratio):
0.018
Effect Allele:
T
Z-score (Ratio):
20.772
Reference Allele:
C
-log10(P):
-219.001
MAF:
0.339
Beta (Num):
0.281
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.084
SE (Den):
0.013
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism5[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism5[1]

Ratio Explanation:

This ratio may reflect the balance between hydroxylated and non-hydroxylated sphingomyelin species, potentially influenced by FADS desaturase activity on fatty acid precursors.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/FADS2, key regulators of fatty acid desaturation1[1], 2[2], 3[3], 4[4], likely alter the composition of fatty acid precursors for sphingolipid synthesis. This dysregulation of sphingolipid metabolism6[5], 7[6], 5[7], 8[8], 9[9], 10[10] contributes to the pathogenesis of inflammatory conditions like inflammatory bowel disease6[11], 5[12], 9[13], 10[14] and cardiovascular diseases11[15], 7[16], 8[17], which are among the observed phenotypes.

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