sphingomyelin (d18:1/20:1, d18:2/20:0)* to 1-linoleoyl-2-linolenoyl-gpc (18:2/18:3)*

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-linoleoyl-2-linolenoyl-gpc (18:2/18:3)*
Metabolite Accession: GCST90200095
Name: 1-linoleoyl-2-linolenoyl-gpc (18:2/18:3)*
Hmdb Id: HMDB0008141
Super Pathway: NA
Sub Pathway: NA
Inchikey: HZGAVPNEGHQJID

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):
-0.355
Position:
61557803
SE (Ratio):
0.021
Effect Allele:
C
Z-score (Ratio):
-16.809
Reference Allele:
T
-log10(P):
-144.320
MAF:
0.346
Beta (Num):
-0.123
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.232
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Glycerophospholipid metabolism.8[1], 9[2]

Ratio Explanation:

The ratio reflects the balance between sphingolipid and glycerophospholipid pools, modulated by FADS activity which influences the fatty acid constituents of both lipids.10[1], 11[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/FADS2 alter desaturase activity, affecting the composition of fatty acids in both sphingomyelins and glycerophosphocholines.10[1], 11[2] This dyslipidemia is associated with an increased risk for cholelithiasis and hypercholesterolemia, likely through effects on cholesterol metabolism and inflammation.12[3], 11[4], 13[5], 14[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