1-palmitoyl-2-stearoyl-gpc (16:0/18:0) to sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)*

Numerator 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

Denominator Metabolite

Metabolite Accession: GCST90199995
Name: sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174533

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):
-0.400
Position:
61549025
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-18.209
Reference Allele:
G
-log10(P):
-168.921
MAF:
0.338
Beta (Num):
-0.214
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.186
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Phospholipid biosynthesis.1[1], 3[2]

Denominator Metabolite Explanation:

Sphingolipid biosynthesis.4[1], 5[2]

Ratio Explanation:

The ratio may reflect FADS1-mediated balance between saturated phosphatidylcholine species and sphingolipids, which can be interconverted and are influenced by fatty acid availability.6[1], 7[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

FADS1 variants are associated with altered FADS1 expression, which impacts the balance of fatty acids available for incorporation into complex lipids.8[1] This dysregulation is linked to hypercholesterolemia, type 2 diabetes, and disorders of lipoprotein metabolism.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