1-(1-enyl-palmitoyl)-gpc (p-16:0)* to dihomo-linolenoylcarnitine (c20:3n3 or 6)*

Numerator Metabolite

Structure of 1-(1-enyl-palmitoyl)-gpc (p-16:0)*
Metabolite Accession: GCST90199899
Name: 1-(1-enyl-palmitoyl)-gpc (p-16:0)*
Hmdb Id: HMDB0010407
Super Pathway: NA
Sub Pathway: NA
Inchikey: HTZINLFNXLXRBC

Denominator Metabolite

Metabolite Accession: GCST90200139
Name: dihomo-linolenoylcarnitine (c20:3n3 or 6)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174560

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):
-0.327
Position:
61581764
SE (Ratio):
0.021
Effect Allele:
C
Z-score (Ratio):
-15.730
Reference Allele:
T
-log10(P):
-126.695
MAF:
0.307
Beta (Num):
-0.172
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.155
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Plasmalogen biosynthesis6[1], 7[2]

Denominator Metabolite Explanation:

Fatty acid metabolism, beta-oxidation8[1], 9[2], 10[3]

Ratio Explanation:

The ratio reflects the balance between ether phospholipid synthesis and polyunsaturated fatty acid metabolism, influenced by FADS1/FADS2 enzymatic activity on fatty acid precursors.5[1], 11[2], 12[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters fatty acid metabolism, which is linked to inflammatory skin disorders like seborrhoeic and infective dermatitis.13[1], 14[2] Lower FADS2 expression is associated with a higher risk of atopic eczema.15[3], 16[4] This dysregulation may contribute to the observed skin-related phenotypes.

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