hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to adrenate (22:4n6)

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 adrenate (22:4n6)
Metabolite Accession: GCST90199709
Name: adrenate (22:4n6)
Hmdb Id: HMDB0002226
Super Pathway: NA
Sub Pathway: NA
Inchikey: TWSWSIQAPQLDBP

Associated Genomic Regions

Region: rs174546

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):
0.461
Position:
61569830
SE (Ratio):
0.024
Effect Allele:
T
Z-score (Ratio):
19.039
Reference Allele:
C
-log10(P):
-184.422
MAF:
0.340
Beta (Num):
0.279
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.183
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.5[1]

Denominator Metabolite Explanation:

Fatty acid biosynthesis/metabolism.6[1], 7[2]

Ratio Explanation:

The ratio reflects FADS1/FADS2 activity, where lower activity decreases adrenate (denominator) production and alters the fatty acid pool for sphingomyelin (numerator) synthesis.8[1], 9[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced FADS1/FADS2 activity, indicated by the ratio, alters PUFA levels, which is linked to inflammation and metabolic dysregulation, contributing to phenotypes like inflammatory bowel disease, type 2 diabetes, and cardiovascular diseases.1[1], 10[2], 11[3], 12[4]

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