hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1-(1-enyl-palmitoyl)-2-palmitoleoyl-gpc (p-16:0/16:1)*

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)-2-palmitoleoyl-gpc (p-16:0/16:1)*
Metabolite Accession: GCST90200070
Name: 1-(1-enyl-palmitoyl)-2-palmitoleoyl-gpc (p-16:0/16:1)*
Hmdb Id: HMDB0011207
Super Pathway: NA
Sub Pathway: NA
Inchikey: FZMYLOBGNYZPQO

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):
0.383
Position:
61588305
SE (Ratio):
0.018
Effect Allele:
G
Z-score (Ratio):
21.533
Reference Allele:
A
-log10(P):
-235.137
MAF:
0.344
Beta (Num):
0.277
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.107
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.2[1], 3[2]

Denominator Metabolite Explanation:

Ether lipid (plasmalogen) metabolism, Glycerophospholipid metabolism.4[1]

Ratio Explanation:

The ratio reflects the balance between sphingolipid and ether lipid synthesis, which is influenced by FADS1/FADS2 activity on polyunsaturated fatty acid precursors.5[1], 6[2], 7[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters polyunsaturated fatty acid metabolism, influencing lipid profiles, including cholesterol levels and complex lipids like sphingolipids and plasmalogens.8[1], 5[2], 7[3] This dyslipidemia is a known risk factor for hypercholesterolemia and has been linked to colorectal neoplasms.9[4], 10[5], 11[6]

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