1-palmitoyl-2-linoleoyl-gpi (16:0/18:2) to sphingomyelin (d18:2/14:0, d18:1/14:1)*

Numerator Metabolite

Structure of 1-palmitoyl-2-linoleoyl-gpi (16:0/18:2)
Metabolite Accession: GCST90200332
Name: 1-palmitoyl-2-linoleoyl-gpi (16:0/18:2)
Hmdb Id: HMDB0009784
Super Pathway: NA
Sub Pathway: NA
Inchikey: BSNJSZUDOMPYIR

Denominator Metabolite

Metabolite Accession: GCST90199975
Name: sphingomyelin (d18:2/14:0, d18:1/14:1)*
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):
0.272
Position:
61557803
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
14.371
Reference Allele:
T
-log10(P):
-106.153
MAF:
0.347
Beta (Num):
0.182
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.090
SE (Den):
0.013
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Glycosylphosphatidylinositol (GPI) anchor biosynthesis.4[1], 5[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.6[1], 7[2], 5[3]

Ratio Explanation:

The ratio reflects the balance between GPI and sphingomyelin lipid pools, which is influenced by FADS1/FADS2 activity on fatty acid precursors.8[1], 9[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters fatty acid metabolism, impacting the balance of these distinct lipid classes.10[1], 8[2] This dysregulation likely contributes to the associated phenotypes of cholelithiasis and hypercholesterolemia by affecting overall lipid homeostasis.11[3], 12[4], 13[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