hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to arachidonate (20:4n6)

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 arachidonate (20:4n6)
Metabolite Accession: GCST90200358
Name: arachidonate (20:4n6)
Hmdb Id: HMDB0001043
Super Pathway: NA
Sub Pathway: NA
Inchikey: YZXBAPSDXZZRGB

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):
0.594
Position:
61569830
SE (Ratio):
0.024
Effect Allele:
T
Z-score (Ratio):
25.073
Reference Allele:
C
-log10(P):
-317.785
MAF:
0.340
Beta (Num):
0.279
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.315
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:

Sphingomyelin metabolism6[1], 7[2]

Denominator Metabolite Explanation:

Fatty acid metabolism1[1], 8[2], 9[3]

Ratio Explanation:

The ratio reflects the balance between sphingomyelin and arachidonic acid pathways, both influenced by FADS gene activity.1[1], 2[2], 10[3], 6[4]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in the FADS gene cluster strongly regulates arachidonic acid levels, a key mediator of inflammation.3[1], 11[2], 12[3], 13[4], 14[5], 15[6] This alteration, reflected in the ratio, is linked to inflammatory and metabolic disorders like cholelithiasis, type 2 diabetes, and hypercholesterolemia.10[7]

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