1-palmitoyl-2-linoleoyl-gpc (16:0/18:2) to sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*

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

Metabolite Accession: GCST90200033
Name: sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs102275

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):
0.349
Position:
61557803
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
19.806
Reference Allele:
T
-log10(P):
-199.358
MAF:
0.347
Beta (Num):
0.271
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.078
SE (Den):
0.014
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Glycerophospholipid metabolism, Fatty acid biosynthesis.6[1], 7[2], 8[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism.9[1]

Ratio Explanation:

The ratio reflects the balance between glycerophospholipid and sphingolipid synthesis, where FADS1/FADS2 activity impacts the acyl chains available for both pathways, influencing membrane composition.1[1], 2[2], 10[3], 11[4]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced FADS activity, influenced by genetic factors, alters the balance of fatty acids available for both phosphatidylcholine and sphingomyelin synthesis. This imbalance affects membrane fluidity and signaling, potentially contributing to the development of cholelithiasis (gallstones) and hypercholesterolemia.12[1], 13[2], 14[3], 15[4]

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