1-palmitoyl-2-stearoyl-gpc (16:0/18:0) to sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*

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: GCST90200013
Name: sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs964184

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):
0.255
Position:
116648917
SE (Ratio):
0.028
Effect Allele:
G
Z-score (Ratio):
9.206
Reference Allele:
C
-log10(P):
-44.836
MAF:
0.131
Beta (Num):
0.153
Novel Locus:
No
SE (Num):
0.023
Beta (Den):
-0.102
SE (Den):
0.021
No CNV overlap
rQTL cluster:
248
Reaction Distance:
NA
Closest Genes:
ZNF259 BUD13 APOA5 APOA4 APOC3

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Sphingolipid metabolism.6[1], 7[2], 8[3]

Ratio Explanation:

The ratio reflects FADS1-mediated fatty acid desaturation activity, contrasting a saturated phosphatidylcholine with various sphingomyelins, indicating overall lipid saturation status.1[1], 9[2], 10[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1 alters fatty acid desaturation, impacting the balance of saturated and unsaturated lipids reflected in the ratio.11[1], 12[2], 9[3], 10[4] This dysregulation affects lipoprotein metabolism, contributing to cardiovascular diseases like atherosclerosis and myocardial infarction, which are strongly represented among the associated phenotypes.11[5], 13[6], 14[7], 15[8]

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