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

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-gpc (18:2)
Metabolite Accession: GCST90199742
Name: 1-linoleoyl-gpc (18:2)
Hmdb Id: HMDB0010386
Super Pathway: NA
Sub Pathway: NA
Inchikey: SPJFYYJXNPEZDW

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):
-0.202
Position:
61557826
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
-10.473
Reference Allele:
T
-log10(P):
-57.425
MAF:
0.340
Beta (Num):
-0.076
Novel Locus:
No
SE (Num):
0.014
Beta (Den):
0.126
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]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism.5[1]

Ratio Explanation:

The ratio reflects the balance between sphingolipid and glycerophospholipid pathways. FADS1/FADS2 activity, by regulating polyunsaturated fatty acid availability, could indirectly influence the acylation of both lipid classes.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/FADS2 alter desaturase activity, impacting levels of polyunsaturated fatty acids that are incorporated into both sphingomyelins and glycerophospholipids.3[1], 6[2] This altered lipid profile is associated with dyslipidemia and increased risk for cardiovascular and inflammatory diseases.7[3], 8[4], 9[5]

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