sphingomyelin (d18:2/14:0, d18:1/14:1)* to 1-linoleoyl-gpe (18:2)*

Numerator Metabolite

Metabolite Accession: GCST90199975
Name: sphingomyelin (d18:2/14:0, d18:1/14:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-linoleoyl-gpe (18:2)*
Metabolite Accession: GCST90199793
Name: 1-linoleoyl-gpe (18:2)*
Hmdb Id: HMDB0011507
Super Pathway: NA
Sub Pathway: NA
Inchikey: DBHKHNGBVGWQJE

Associated Genomic Regions

Region: rs102274

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):
-0.368
Position:
61557826
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
-19.580
Reference Allele:
T
-log10(P):
-194.885
MAF:
0.340
Beta (Num):
-0.088
Novel Locus:
No
SE (Num):
0.013
Beta (Den):
0.280
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.3[1], 4[2]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism.5[1], 6[2]

Ratio Explanation:

The ratio reflects FADS1/FADS2 activity, which alters the fatty acid composition of both sphingomyelins and glycerophospholipids by regulating PUFA synthesis.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters desaturase activity, impacting the balance of fatty acids incorporated into complex lipids. This dysregulation of lipid metabolism is a key factor in developing hypercholesterolemia, cholelithiasis, and inflammatory conditions like asthma.1[1], 7[2], 8[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