sphingomyelin (d18:2/21:0, d16:2/23:0)* to 1-palmitoleoyl-2-linolenoyl-gpc (16:1/18:3)*

Numerator Metabolite

Metabolite Accession: GCST90200129
Name: sphingomyelin (d18:2/21:0, d16:2/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-palmitoleoyl-2-linolenoyl-gpc (16:1/18:3)*
Metabolite Accession: GCST90200102
Name: 1-palmitoleoyl-2-linolenoyl-gpc (16:1/18:3)*
Hmdb Id: HMDB0008008
Super Pathway: NA
Sub Pathway: NA
Inchikey: MMUCLZZSNHBNFL

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):
-0.353
Position:
61588305
SE (Ratio):
0.019
Effect Allele:
G
Z-score (Ratio):
-18.938
Reference Allele:
A
-log10(P):
-182.495
MAF:
0.343
Beta (Num):
-0.084
Novel Locus:
No
SE (Num):
0.013
Beta (Den):
0.270
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.3[1], 4[2]

Denominator Metabolite Explanation:

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

Ratio Explanation:

The ratio reflects FADS-mediated desaturation activity, influencing the balance between specific sphingomyelin and phosphatidylcholine species which compete for polyunsaturated fatty acid substrates.1[1], 7[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters polyunsaturated fatty acid metabolism, reflected in the lipid ratio. This impacts systemic inflammation and lipid profiles, plausibly explaining colocalized risks for inflammatory conditions (IBD, asthma) and cardiovascular diseases (hypercholesterolemia, thrombophlebitis).8[1], 9[2], 10[3], 11[4]

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