dihomo-linolenate (20:3n3 or n6) to Docosahexaenoate DHA; 22:6n3

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 docosahexaenoate (dha; 22:6n3)
Metabolite Accession: GCST90199651
Name: docosahexaenoate (dha; 22:6n3)
Hmdb Id: HMDB0002183
Super Pathway: NA
Sub Pathway: NA
Inchikey: MBMBGCFOFBJSGT

Associated Genomic Regions

Region: rs174538

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):
0.175
Position:
61560081
SE (Ratio):
0.012
Effect Allele:
A
Z-score (Ratio):
14.378
Reference Allele:
G
-log10(P):
-106.257
MAF:
0.310
Beta (Num):
0.087
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.087
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 FEN1 FADS2 MYRF FADS1

LLM Analysis

Numerator Metabolite Explanation:

Polyunsaturated fatty acid biosynthesis.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Polyunsaturated fatty acid biosynthesis.6[1], 7[2], 8[3]

Ratio Explanation:

The ratio reflects the efficiency of converting the intermediate dihomo-linolenate to the end-product DHA, a process influenced by FADS1 and FADS2 enzymatic activity.9[1], 10[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1 alter enzyme activity, impacting the balance of omega-3/omega-6 fatty acids.9[1], 11[2] This dysregulation affects inflammatory pathways and lipid profiles, contributing to phenotypes like valvular heart disease, asthma, and type 2 diabetes by altering levels of pro-inflammatory and anti-inflammatory lipid mediators.12[3], 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