1-palmitoyl-2-linoleoyl-gpc (16:0/18:2) to 1-palmitoyl-2-stearoyl-gpc (16:0/18:0)

Numerator Metabolite

Structure of 1-palmitoyl-2-linoleoyl-gpc (16:0/18:2)
Metabolite Accession: GCST90200330
Name: 1-palmitoyl-2-linoleoyl-gpc (16:0/18:2)
Hmdb Id: HMDB0007973
Super Pathway: NA
Sub Pathway: NA
Inchikey: JLPULHDHAOZNQI

Denominator Metabolite

Structure of 1-palmitoyl-2-stearoyl-gpc (16:0/18:0)
Metabolite Accession: GCST90200041
Name: 1-palmitoyl-2-stearoyl-gpc (16:0/18:0)
Hmdb Id: HMDB0007970
Super Pathway: NA
Sub Pathway: NA
Inchikey: PZNPLUBHRSSFHT

Associated Genomic Regions

Region: rs174564

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.488
Position:
61588305
SE (Ratio):
0.017
Effect Allele:
G
Z-score (Ratio):
28.576
Reference Allele:
A
-log10(P):
-411.862
MAF:
0.345
Beta (Num):
0.276
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.213
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

Region: rs55727637

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Clumped rQTL variant

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SNP Summary

Chr:
16
Beta (Ratio):
0.165
Position:
15145252
SE (Ratio):
0.018
Effect Allele:
T
Z-score (Ratio):
9.210
Reference Allele:
C
-log10(P):
-44.873
MAF:
0.305
Beta (Num):
0.090
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
-0.075
SE (Den):
0.017
No CNV overlap
rQTL cluster:
34
Reaction Distance:
NA
Closest Genes:
PDXDC1 NTAN1 RRN3 NPIPA1 NOMO1

LLM Analysis

Numerator Metabolite Explanation:

Glycerophospholipid metabolism, Fatty acid metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, Fatty acid metabolism.6[1], 7[2]

Ratio Explanation:

The ratio reflects the enzymatic activity of FADS2, converting stearic acid (18:0) to linoleic acid (18:2) on a 1-palmitoyl-glycerophosphocholine backbone.8[1], 9[2]

Ratio Evidence:

canonical reaction, not mediated by an associated enzyme

Gene Ratio Phenotype Relationship:

Genetic variations in FADS1/FADS2 alter desaturase activity, impacting the ratio of these fatty acids.2[1], 10[2] This dysregulation is linked to altered lipid profiles, including cholesterol levels, and is associated with cholelithiasis and hypercholesterolemia.11[3], 10[4], 12[5]

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