1-palmitoyl-2-dihomo-linolenoyl-gpc (16:0/20:3n3 or 6)* to 1-palmitoyl-2-arachidonoyl-gpi (16:0/20:4)*

Numerator 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

Denominator Metabolite

Structure of 1-palmitoyl-2-arachidonoyl-gpi (16:0/20:4)*
Metabolite Accession: GCST90200062
Name: 1-palmitoyl-2-arachidonoyl-gpi (16:0/20:4)*
Hmdb Id: HMDB0009789
Super Pathway: NA
Sub Pathway: NA
Inchikey: KIQYUSYSJTUGFZ

Associated Genomic Regions

Region: rs174549

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.496
Position:
61571382
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
28.984
Reference Allele:
G
-log10(P):
-423.640
MAF:
0.305
Beta (Num):
0.335
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.161
SE (Den):
0.017
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Closest Genes:

Region: rs8736

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
0.125
Position:
54677189
SE (Ratio):
0.016
Effect Allele:
T
Z-score (Ratio):
7.571
Reference Allele:
C
-log10(P):
-30.923
MAF:
0.436
Beta (Num):
0.052
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.073
SE (Den):
0.016
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Closest Genes:

LLM Analysis

Numerator Metabolite Explanation:

Glycerophospholipid metabolism, fatty acid biosynthesis.1[1]

Denominator Metabolite Explanation:

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

Ratio Explanation:

This ratio reflects FADS1 enzymatic activity, where the fatty acid in the numerator GPC (20:3) is the substrate for the fatty acid in the denominator GPI (20:4).6[1], 7[2]

Ratio Evidence:

canonical reaction catalyzed by the enzyme

Gene Ratio Phenotype Relationship:

Reduced FADS1 activity, indicated by a higher ratio, alters polyunsaturated fatty acid balance, which is linked to dyslipidemia (pure hypercholesterolaemia) and inflammatory skin conditions like seborrhoeic dermatitis through impacts on inflammatory lipid mediators.8[1], 9[2], 10[3], 11[4]

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