hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to sphingomyelin (d18:1/20:1, d18:2/20:0)*

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: GCST90199996
Name: sphingomyelin (d18:1/20:1, d18:2/20:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174548

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.412
Position:
61571348
SE (Ratio):
0.018
Effect Allele:
G
Z-score (Ratio):
23.185
Reference Allele:
C
-log10(P):
-272.153
MAF:
0.309
Beta (Num):
0.273
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.140
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism

Denominator Metabolite Explanation:

Sphingolipid metabolism

Ratio Explanation:

The ratio likely reflects fatty acid desaturase 1 (FADS1) activity, comparing a hydroxylated C16 sphingomyelin to a C20 monounsaturated sphingomyelin, a downstream product.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

FADS1 variants alter polyunsaturated fatty acid (PUFA) metabolism, reflected in the sphingomyelin ratio.2[1] Altered PUFA levels impact inflammatory responses and lipid profiles, plausibly explaining associations with asthma, dermatitis, phlebitis, and disorders of lipoprotein metabolism.4[2], 5[3]

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