dihomo-linolenate (20:3n3 or n6) to palmitoleoylcarnitine (c16:1)*

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 palmitoleoylcarnitine (c16:1)*
Metabolite Accession: GCST90200110
Name: palmitoleoylcarnitine (c16:1)*
Hmdb Id: HMDB0240782
Super Pathway: NA
Sub Pathway: NA
Inchikey: JFAGPSOZZSTLRF

Associated Genomic Regions

Region: rs603424

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.168
Position:
102075479
SE (Ratio):
0.018
Effect Allele:
A
Z-score (Ratio):
9.237
Reference Allele:
G
-log10(P):
-45.124
MAF:
0.176
Beta (Num):
0.038
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.130
SE (Den):
0.019
No CNV overlap
rQTL cluster:
67
Reaction Distance:
NA
Closest Genes:
PKD2L1 BLOC1S2 SCD CWF19L1 CHUK

Region: rs61896141

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.175
Position:
61556039
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
9.643
Reference Allele:
A
-log10(P):
-48.992
MAF:
0.179
Beta (Num):
0.149
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.026
SE (Den):
0.019
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

Region: rs273917

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
-0.144
Position:
131659618
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
-9.494
Reference Allele:
G
-log10(P):
-47.553
MAF:
0.294
Beta (Num):
-0.053
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.091
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 P4HA2 SLC22A5 PDLIM4 C5orf56

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid biosynthesis4[1], 5[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation6[1], 7[2]

Ratio Explanation:

The ratio reflects the activity of FADS1, where a higher ratio suggests lower enzyme efficiency, leading to the accumulation of the substrate dihomo-linolenate.8[1], 9[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced FADS1 activity, indicated by a higher dihomo-linolenate to palmitoylcarnitine ratio, is associated with altered lipid profiles and an increased risk of cardiovascular diseases like myocardial infarction.10[1], 11[2], 12[3]

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