dihomo-linolenate (20:3n3 or n6) to 10-heptadecenoate (17:1n7)

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 10-heptadecenoate (17:1n7)
Metabolite Accession: GCST90199731
Name: 10-heptadecenoate (17:1n7)
Hmdb Id: HMDB0060038
Super Pathway: NA
Sub Pathway: NA
Inchikey: GDTXICBNEOEPAZ

Associated Genomic Regions

Region: rs603424

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.094
Position:
102075479
SE (Ratio):
0.012
Effect Allele:
A
Z-score (Ratio):
7.982
Reference Allele:
G
-log10(P):
-34.171
MAF:
0.176
Beta (Num):
0.038
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
-0.056
SE (Den):
0.019
No CNV overlap
rQTL cluster:
67
Reaction Distance:
NA
Closest Genes:
PKD2L1 BLOC1S2 SCD CWF19L1 CHUK

Region: rs61897793

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.140
Position:
61599347
SE (Ratio):
0.012
Effect Allele:
A
Z-score (Ratio):
12.065
Reference Allele:
G
-log10(P):
-75.510
MAF:
0.181
Beta (Num):
0.147
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.008
SE (Den):
0.019
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 FADS3

Region: rs12928099

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Clumped rQTL variant

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SNP Summary

Chr:
16
Beta (Ratio):
0.097
Position:
15150505
SE (Ratio):
0.010
Effect Allele:
A
Z-score (Ratio):
9.838
Reference Allele:
C
-log10(P):
-50.920
MAF:
0.291
Beta (Num):
0.100
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.004
SE (Den):
0.016
No CNV overlap
rQTL cluster:
34
Reaction Distance:
NA
Closest Genes:
PDXDC1 NTAN1 RRN3 NPIPA1 NOMO1

LLM Analysis

Numerator Metabolite Explanation:

omega-6 fatty acid metabolism

Denominator Metabolite Explanation:

Odd-chain fatty acid biosynthesis

Ratio Explanation:

This ratio likely reflects the enzymatic activity of FADS2, which synthesizes the numerator dihomo-linolenate, relative to the background of an odd-chain fatty acid.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in FADS2 alters its desaturase activity, impacting the ratio.1[1], 3[2], 2[3] This dysregulation of fatty acid metabolism contributes to dyslipidemia and an increased risk for cardiovascular diseases like myocardial infarction and atherosclerosis, and is also implicated in inflammatory skin conditions like seborrhoeic dermatitis.1[4], 4[5], 5[6]

Phenotype Driver:

Gene-centric:[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