hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to arachidonoylcarnitine (c20:4)

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 arachidonoylcarnitine (c20:4)
Metabolite Accession: GCST90200150
Name: arachidonoylcarnitine (c20:4)
Hmdb Id: HMDB0006455
Super Pathway: NA
Sub Pathway: NA
Inchikey: RBFQHRALHSUPIA

Associated Genomic Regions

Region: rs174554

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):
0.547
Position:
61579463
SE (Ratio):
0.023
Effect Allele:
G
Z-score (Ratio):
23.439
Reference Allele:
A
-log10(P):
-278.086
MAF:
0.338
Beta (Num):
0.279
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.269
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.5[1], 6[2]

Denominator Metabolite Explanation:

Fatty acid metabolism.7[1]

Ratio Explanation:

The ratio reflects the balance between sphingolipid metabolism and polyunsaturated fatty acid synthesis. FADS1/FADS2 are directly involved in arachidonoylcarnitine precursor synthesis, not hydroxypalmitoyl sphingomyelin.8[1], 4[2], 9[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

The FADS1/FADS2 gene cluster influences the levels of arachidonic acid, a precursor to arachidonoylcarnitine.3[1], 4[2], 10[3] Altered FADS activity, reflected in the ratio, is associated with inflammatory and metabolic disorders, including those listed in FinnGen and BioBank Japan, such as asthma and cholelithiasis.

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