hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to sphingomyelin (d18:2/24:1, d18:1/24:2)*

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: GCST90200040
Name: sphingomyelin (d18:2/24:1, d18:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs99780

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):
0.354
Position:
61596633
SE (Ratio):
0.015
Effect Allele:
T
Z-score (Ratio):
23.583
Reference Allele:
C
-log10(P):
-281.464
MAF:
0.346
Beta (Num):
0.277
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.077
SE (Den):
0.015
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.3[1], 5[2]

Ratio Explanation:

The ratio reflects the balance between hydroxylated and desaturated sphingomyelin species, influenced by FADS1's role in modulating the fatty acid precursor pool for sphingolipid synthesis.6[1]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced FADS1 activity, indicated by eQTL colocalization, alters polyunsaturated fatty acid synthesis, which impacts systemic lipid profiles and is associated with pure hypercholesterolemia and other lipid-related disorders.1[1], 7[2], 8[3], 9[4]

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