dihomo-linolenate (20:3n3 or n6) to stearate (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 stearate (18:0)
Metabolite Accession: GCST90200390
Name: stearate (18:0)
Hmdb Id: HMDB0000827
Super Pathway: NA
Sub Pathway: NA
Inchikey: QIQXTHQIDYTFRH

Associated Genomic Regions

Region: rs968567

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.162
Position:
61595564
SE (Ratio):
0.012
Effect Allele:
T
Z-score (Ratio):
13.098
Reference Allele:
C
-log10(P):
-88.587
MAF:
0.179
Beta (Num):
0.145
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.017
SE (Den):
0.020
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

Region: rs34955778

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Clumped rQTL variant

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SNP Summary

Chr:
16
Beta (Ratio):
-0.080
Position:
15139594
SE (Ratio):
0.010
Effect Allele:
C
Z-score (Ratio):
-8.401
Reference Allele:
T
-log10(P):
-37.652
MAF:
0.430
Beta (Num):
-0.051
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.030
SE (Den):
0.015
No CNV overlap
rQTL cluster:
34
Reaction Distance:
NA
Closest Genes:
PDXDC1 NTAN1 RRN3 NPIPA1 NOMO1

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid biosynthesis/elongation

Denominator Metabolite Explanation:

Fatty acid biosynthesis/elongation

Ratio Explanation:

The ratio reflects the enzymatic conversion of stearate precursors to dihomo-linolenate, a process regulated by FADS enzymes, indicating desaturase and elongase activity.5[1], 6[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1 and FADS2 alters desaturase activity, impacting the dihomo-linolenate to stearate ratio, which is associated with inflammatory skin conditions and systemic inflammation-related phenotypes like altered blood cell counts and lipid profiles.7[1], 8[2], 9[3], 10[4]

Phenotype Driver:

Gene-centric:FADS1/FADS2

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