sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)* to 1-stearoyl-2-linoleoyl-gpc (18:0/18:2)*

Numerator Metabolite

Metabolite Accession: GCST90200033
Name: sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-stearoyl-2-linoleoyl-gpc (18:0/18:2)*
Metabolite Accession: GCST90200037
Name: 1-stearoyl-2-linoleoyl-gpc (18:0/18:2)*
Hmdb Id: HMDB0008039
Super Pathway: NA
Sub Pathway: NA
Inchikey: FORFDCPQKJHEBF

Associated Genomic Regions

Region: rs102275

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):
-0.298
Position:
61557803
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
-17.271
Reference Allele:
T
-log10(P):
-152.222
MAF:
0.346
Beta (Num):
-0.078
Novel Locus:
No
SE (Num):
0.014
Beta (Den):
0.220
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis

Denominator Metabolite Explanation:

Phosphatidylcholine biosynthesis

Ratio Explanation:

This ratio may reflect the balance between sphingolipid and glycerophospholipid synthesis, influenced by the availability of specific fatty acyl chains modulated by FADS activity.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters fatty acid desaturation, influencing the composition of sphingomyelins and phosphatidylcholines. This dysregulation of lipid metabolism is linked to an increased risk of pure hypercholesterolemia and cholelithiasis, likely through effects on lipoprotein and cholesterol metabolism.6[1], 7[2]

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