palmitoyl dihydrosphingomyelin (d18:0/16:0)* to 1-(1-enyl-stearoyl)-2-linoleoyl-gpe (p-18:0/18:2)*

Numerator Metabolite

Structure of palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Metabolite Accession: GCST90200035
Name: palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Hmdb Id: HMDB0010168
Super Pathway: NA
Sub Pathway: NA
Inchikey: QHZIGNLCLJPLCU

Denominator Metabolite

Structure of 1-(1-enyl-stearoyl)-2-linoleoyl-gpe (p-18:0/18:2)*
Metabolite Accession: GCST90200076
Name: 1-(1-enyl-stearoyl)-2-linoleoyl-gpe (p-18:0/18:2)*
Hmdb Id: HMDB0011376
Super Pathway: NA
Sub Pathway: NA
Inchikey: XVXISDREVDGQPX

Associated Genomic Regions

Region: rs7412

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:
19
Beta (Ratio):
-0.360
Position:
45412079
SE (Ratio):
0.031
Effect Allele:
T
Z-score (Ratio):
-11.507
Reference Allele:
C
-log10(P):
-68.878
MAF:
0.084
Beta (Num):
-0.142
Novel Locus:
No
SE (Num):
0.027
Beta (Den):
0.218
SE (Den):
0.028
No CNV overlap
rQTL cluster:
8
Reaction Distance:
NA
Closest Genes:
APOE TOMM40 APOC1 PVRL2 APOC4

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.9[1], 10[2], 11[3]

Denominator Metabolite Explanation:

Ether lipid (plasmalogen) synthesis.12[1], 13[2], 14[3], 15[4]

Ratio Explanation:

Reflects the balance between sphingolipid and plasmalogen synthesis, where FADS1 activity influences the availability of polyunsaturated fatty acids for plasmalogen membrane incorporation.12[1], 15[2], 11[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1 gene variants alter polyunsaturated fatty acid metabolism, affecting the balance of lipid species like sphingolipids and plasmalogens. This dysregulation contributes to the development of cardiometabolic phenotypes, including lipoprotein disorders, atherosclerosis, and type 2 diabetes.6[1], 16[2], 17[3], 18[4], 19[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