dihomo-linolenate (20:3n3 or n6) to sphingomyelin (d18:1/18:1, d18:2/18:0)

Numerator Metabolite

Structure of dihomo-linolenate (20:3n3 or n6)
Metabolite Accession: GCST90199820
Name: dihomo-linolenate (20:3n3 or n6)
Hmdb Id: HMDB0002925
Super Pathway: NA
Sub Pathway: NA
Inchikey: AHANXAKGNAKFSK

Denominator Metabolite

Structure of sphingomyelin (d18:1/18:1, d18:2/18:0)
Metabolite Accession: GCST90199878
Name: sphingomyelin (d18:1/18:1, d18:2/18:0)
Hmdb Id: HMDB0012101
Super Pathway: NA
Sub Pathway: NA
Inchikey: NBEADXWAAWCCDG

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):
0.223
Position:
61581764
SE (Ratio):
0.021
Effect Allele:
C
Z-score (Ratio):
10.691
Reference Allele:
T
-log10(P):
-59.754
MAF:
0.309
Beta (Num):
0.097
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.126
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:

PUFA biosynthesis / n-6 fatty acid metabolism4[1], 5[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism / Ceramide synthesis6[1], 7[2], 8[3]

Ratio Explanation:

The ratio reflects FADS1 enzymatic activity on dihomo-linolenate (numerator) relative to the unrelated sphingomyelin pathway, indicating the rate of PUFA conversion.9[1], 10[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1 alters its expression, affecting PUFA balance and subsequent inflammatory lipid mediators.1[1], 11[2], 12[3] This dysregulation is linked to inflammatory conditions like asthma and phlebitis, and metabolic disorders such as cholelithiasis and dyslipidaemia, all listed as associated phenotypes.13[4], 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