hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to sphingomyelin (d18:2/21:0, d16:2/23:0)*

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: GCST90200129
Name: sphingomyelin (d18:2/21:0, d16:2/23:0)*
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):
0.363
Position:
61593816
SE (Ratio):
0.017
Effect Allele:
T
Z-score (Ratio):
21.581
Reference Allele:
C
-log10(P):
-236.179
MAF:
0.339
Beta (Num):
0.281
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.081
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 metabolism.2[1]

Denominator Metabolite Explanation:

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

Ratio Explanation:

The ratio of hydroxypalmitoyl sphingomyelin to polyunsaturated sphingomyelin may reflect FADS1 enzyme activity, which influences the saturation levels of fatty acid precursors for lipids.4[1]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered FADS1 activity impacts the balance of long-chain polyunsaturated fatty acids, key precursors for inflammatory mediators.1[1], 5[2], 6[3] This dysregulation is linked to inflammatory conditions like asthma and IBD, and disorders of lipid metabolism, which are among the associated phenotypes.7[4], 8[5]

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