sphingomyelin (d18:1/20:1, d18:2/20:0)* to 1-(1-enyl-palmitoyl)-2-linoleoyl-gpe (p-16:0/18:2)*

Numerator Metabolite

Metabolite Accession: GCST90199996
Name: sphingomyelin (d18:1/20:1, d18:2/20:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-(1-enyl-palmitoyl)-2-linoleoyl-gpe (p-16:0/18:2)*
Metabolite Accession: GCST90200075
Name: 1-(1-enyl-palmitoyl)-2-linoleoyl-gpe (p-16:0/18:2)*
Hmdb Id: HMDB0011343
Super Pathway: NA
Sub Pathway: NA
Inchikey: LJVXDBWIBQQKFU

Associated Genomic Regions

Region: rs174549

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):
-0.303
Position:
61571382
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-13.656
Reference Allele:
G
-log10(P):
-96.086
MAF:
0.304
Beta (Num):
-0.136
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.167
SE (Den):
0.017
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2], 6[3], 7[4]

Denominator Metabolite Explanation:

Plasmalogen metabolism.8[1], 9[2], 10[3], 11[4]

Ratio Explanation:

The ratio may reflect the balance between sphingolipid and plasmalogen synthesis, influenced by the availability of long-chain polyunsaturated fatty acids produced by FADS enzymes.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered FADS activity can impact the composition of membrane lipids like sphingomyelins and plasmalogens, potentially contributing to phenotypes such as hypercholesterolemia, cholelithiasis, and Type 2 diabetes by affecting cellular signaling, membrane fluidity, and inflammatory processes.12[1], 13[2], 14[3], 15[4], 16[5]

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