hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*

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: GCST90200033
Name: sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs102275

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):
0.349
Position:
61557803
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
22.952
Reference Allele:
T
-log10(P):
-266.751
MAF:
0.347
Beta (Num):
0.272
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.078
SE (Den):
0.014
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis

Denominator Metabolite Explanation:

Sphingolipid biosynthesis

Ratio Explanation:

The ratio reflects the relative activity of ceramide synthesis and desaturation pathways. FADS enzymes influence the fatty acid chains available for incorporation into sphingolipids.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/2 alter fatty acid metabolism1[1], influencing the composition of sphingolipids. This dysregulation is linked to inflammatory conditions like IBD5[2], 6[3], 7[4], 8[5] and metabolic disorders such as cholelithiasis9[6], 10[7], 11[8], 12[9], 13[10] and type 2 diabetes, likely through modulation of inflammatory pathways.

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