1-palmitoyl-2-stearoyl-gpc (16:0/18:0) to sphingomyelin (d18:1/14:0, d16:1/16:0)*

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

Structure of sphingomyelin (d18:1/14:0, d16:1/16:0)*
Metabolite Accession: GCST90199945
Name: sphingomyelin (d18:1/14:0, d16:1/16:0)*
Hmdb Id: HMDB0012097
Super Pathway: NA
Sub Pathway: NA
Inchikey: KYICBZWZQPCUMO

Associated Genomic Regions

Region: rs364585

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:
20
Beta (Ratio):
-0.171
Position:
12962718
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
-9.956
Reference Allele:
G
-log10(P):
-52.099
MAF:
0.384
Beta (Num):
-0.055
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.116
SE (Den):
0.015
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

Glycerophospholipid metabolism2[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism3[1], 4[2]

Ratio Explanation:

This ratio reflects the balance between glycerophospholipid and sphingolipid pools.5[1] FADS1 activity influences this by altering the availability of fatty acid precursors for both pathways.5[2], 6[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1 alters fatty acid desaturation, impacting the composition of both phosphatidylcholines and sphingomyelins.7[1], 8[2] This dysregulation of lipid metabolism is linked to hypercholesterolemia and cholelithiasis.7[3], 9[4], 10[5]

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