docosatrienoate (22:3n3) to sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*

Numerator Metabolite

Structure of docosatrienoate (22:3n3)
Metabolite Accession: GCST90199710
Name: docosatrienoate (22:3n3)
Hmdb Id: HMDB0002823
Super Pathway: NA
Sub Pathway: NA
Inchikey: WBBQTNCISCKUMU

Denominator Metabolite

Structure of sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Metabolite Accession: GCST90200010
Name: sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Hmdb Id: HMDB0012104
Super Pathway: NA
Sub Pathway: NA
Inchikey: VBFKEZGCUWHGSK

Associated Genomic Regions

Region: rs174560

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):
0.340
Position:
61581764
SE (Ratio):
0.024
Effect Allele:
C
Z-score (Ratio):
14.428
Reference Allele:
T
-log10(P):
-106.987
MAF:
0.342
Beta (Num):
0.233
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.107
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:

Polyunsaturated fatty acid (n-3/n-6) biosynthesis.3[1], 4[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.5[1], 6[2], 7[3]

Ratio Explanation:

The ratio may reflect FADS1 activity, where lower activity could decrease docosatrienoate (22:3n3) synthesis while altering the fatty acid pool available for sphingomyelin synthesis.8[1], 9[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1 gene variants are linked to altered lipid profiles and inflammation, which could plausibly connect to the observed phenotypes of hypercholesterolemia, asthma, and various dermatitis conditions.10[1], 11[2], 12[3], 13[4] Reduced FADS1 activity can influence the balance of pro-inflammatory and anti-inflammatory lipid mediators.14[5], 15[6], 16[7]

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