sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)* to sphingomyelin (d18:2/18:1)*

Numerator Metabolite

Metabolite Accession: GCST90200013
Name: sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of sphingomyelin (d18:2/18:1)*
Metabolite Accession: GCST90200128
Name: sphingomyelin (d18:2/18:1)*
Hmdb Id: HMDB0001348
Super Pathway: NA
Sub Pathway: NA
Inchikey: LKQLRGMMMAHREN

Associated Genomic Regions

Region: rs686548

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:
20
Beta (Ratio):
0.175
Position:
12973521
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
12.577
Reference Allele:
T
-log10(P):
-81.852
MAF:
0.386
Beta (Num):
0.120
Novel Locus:
No
SE (Num):
0.014
Beta (Den):
-0.055
SE (Den):
0.015
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism5[1], 6[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism7[1], 8[2]

Ratio Explanation:

The ratio reflects the relative activity of fatty acid desaturase enzymes (FADS1/FADS2), which alters the fatty acid composition of sphingomyelins.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

FADS1/FADS2 variants influence the desaturation of fatty acids incorporated into sphingomyelins, affecting lipid metabolism9[1], 10[2], 11[3]. This altered sphingolipid profile is associated with cholelithiasis and dyslipidemias12[4], 13[5], 14[6], potentially by modifying membrane properties and signaling pathways involved in cholesterol homeostasis and inflammation.

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