hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1-(1-enyl-palmitoyl)-gpc (p-16:0)*

Numerator Metabolite

Metabolite Accession: GCST90200243
Name: hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))**
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-(1-enyl-palmitoyl)-gpc (p-16:0)*
Metabolite Accession: GCST90199899
Name: 1-(1-enyl-palmitoyl)-gpc (p-16:0)*
Hmdb Id: HMDB0010407
Super Pathway: NA
Sub Pathway: NA
Inchikey: HTZINLFNXLXRBC

Associated Genomic Regions

Region: rs174564

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):
0.442
Position:
61588305
SE (Ratio):
0.019
Effect Allele:
G
Z-score (Ratio):
22.910
Reference Allele:
A
-log10(P):
-265.802
MAF:
0.344
Beta (Num):
0.277
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.165
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Plasmalogen / Ether lipid metabolism.6[1], 7[2], 8[3]

Ratio Explanation:

Reflects altered fatty acid metabolism by FADS enzymes, impacting the relative synthesis and composition of sphingomyelins versus plasmalogens which incorporate these fatty acids.1[1], 4[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters polyunsaturated fatty acid levels, impacting the balance of complex lipids like sphingomyelins and plasmalogens.9[1], 10[2] This dysregulation is known to contribute to lipid disorders, including pure hypercholesterolaemia, a phenotype with a significant MR link.11[3]

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