eicosapentaenoate (epa; 20:5n3) to 1-palmitoyl-2-dihomo-linolenoyl-gpc (16:0/20:3n3 or 6)*

Numerator Metabolite

Structure of eicosapentaenoate (epa; 20:5n3)
Metabolite Accession: GCST90200349
Name: eicosapentaenoate (epa; 20:5n3)
Hmdb Id: HMDB0001999
Super Pathway: NA
Sub Pathway: NA
Inchikey: JAZBEHYOTPTENJ

Denominator Metabolite

Metabolite Accession: GCST90200051
Name: 1-palmitoyl-2-dihomo-linolenoyl-gpc (16:0/20:3n3 or 6)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
-0.536
Position:
61569830
SE (Ratio):
0.023
Effect Allele:
T
Z-score (Ratio):
-23.471
Reference Allele:
C
-log10(P):
-278.832
MAF:
0.339
Beta (Num):
-0.205
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.331
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:

Polyunsaturated fatty acid biosynthesis.3[1], 5[2]

Denominator Metabolite Explanation:

Polyunsaturated fatty acid biosynthesis.6[1], 7[2]

Ratio Explanation:

The ratio reflects FADS1 desaturase activity, converting precursors like dihomo-linolenoyl-GPC into products such as EPA within the polyunsaturated fatty acid synthesis pathway.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/FADS2 alter polyunsaturated fatty acid levels, which are precursors to inflammatory mediators. This dysregulation can impact inflammatory (Asthma, IBD), metabolic (Type 2 diabetes, Cholelithiasis), and cardiovascular (thrombophlebitis) diseases associated with these genes.8[1], 9[2], 10[3], 11[4], 12[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