sphingomyelin (d17:2/16:0, d18:2/15:0)* to 1-linoleoyl-2-linolenoyl-gpc (18:2/18:3)*

Numerator Metabolite

Metabolite Accession: GCST90200125
Name: sphingomyelin (d17:2/16:0, d18:2/15:0)*
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):
-0.310
Position:
61557803
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
-16.307
Reference Allele:
T
-log10(P):
-135.982
MAF:
0.346
Beta (Num):
-0.079
Novel Locus:
No
SE (Num):
0.014
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.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, PUFA biosynthesis.7[1], 8[2]

Ratio Explanation:

The ratio reflects FADS enzyme activity, contrasting sphingomyelin levels against the availability of FADS substrates (linoleoyl/linolenoyl groups) within the glycerophospholipid pool.1[1], 9[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters polyunsaturated fatty acid metabolism, which is reflected by the ratio.1[1], 3[2] This dysregulation of lipids and inflammatory precursors contributes to increased risk for lipid-related disorders like cholelithiasis and hypercholesterolemia, which are observed as associated phenotypes.10[3], 11[4], 12[5], 13[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