dihomo-linolenate (20:3n3 or n6) to sphingomyelin (d18:2/21:0, d16:2/23:0)*

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

Metabolite Accession: GCST90200129
Name: sphingomyelin (d18:2/21:0, d16:2/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
0.193
Position:
61581764
SE (Ratio):
0.021
Effect Allele:
C
Z-score (Ratio):
9.424
Reference Allele:
T
-log10(P):
-46.882
MAF:
0.309
Beta (Num):
0.097
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.097
SE (Den):
0.014
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Polyunsaturated fatty acid biosynthesis

Denominator Metabolite Explanation:

Sphingolipid metabolism, ceramide synthesis

Ratio Explanation:

The ratio of dihomo-linolenate to sphingomyelin reflects the balance between fatty acid desaturation by FADS1 and sphingolipid synthesis, both crucial for membrane composition and signaling.3[1], 4[2], 5[3], 6[4]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1 that decrease its activity lead to higher levels of its substrate, dihomo-linolenate, and are associated with altered inflammatory responses and lipid profiles, including cholesterol. This dysregulation contributes to inflammatory phenotypes like asthma, dermatitis, and hypercholesterolemia.7[1], 8[2], 9[3], 10[4], 11[5]

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