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

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

Structure of lignoceroyl sphingomyelin (d18:1/24:0)
Metabolite Accession: GCST90200020
Name: lignoceroyl sphingomyelin (d18:1/24:0)
Hmdb Id: HMDB0011697
Super Pathway: NA
Sub Pathway: NA
Inchikey: QEDPUVGSSDPBMD

Associated Genomic Regions

Region: rs174536

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):
0.342
Position:
61551927
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
20.225
Reference Allele:
A
-log10(P):
-207.753
MAF:
0.341
Beta (Num):
0.276
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.066
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism4[1], 5[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism4[1], 5[2]

Ratio Explanation:

This ratio reflects the balance between hydroxylated and very-long-chain sphingomyelin species, potentially influenced by FADS1's role in modifying fatty acid precursors for ceramide synthesis.6[1]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

FADS1 variants are associated with altered FADS1 expression and changes in lipid profiles, including sphingomyelins.7[1], 6[2] This altered lipid metabolism is linked to an increased risk of cholelithiasis and other metabolic disorders like dyslipidemia and type 2 diabetes.1[3], 8[4], 9[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