sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)* to sphingomyelin (d18:2/23:1)*

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 (d18:2/23:1)*
Metabolite Accession: GCST90200126
Name: sphingomyelin (d18:2/23:1)*
Hmdb Id: HMDB0240668
Super Pathway: NA
Sub Pathway: NA
Inchikey: PUTLJICFLAOKRD

Associated Genomic Regions

Region: rs174560

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):
0.125
Position:
61581764
SE (Ratio):
0.008
Effect Allele:
C
Z-score (Ratio):
14.786
Reference Allele:
T
-log10(P):
-112.244
MAF:
0.308
Beta (Num):
0.072
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
-0.053
SE (Den):
0.014
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Sphingolipid biosynthesis.3[1], 4[2], 5[3]

Ratio Explanation:

This ratio reflects FADS1 activity; FADS1 desaturates fatty acids incorporated into sphingomyelins, thus altering the abundance of specific sphingomyelin species.1[1], 6[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

FADS1 gene variants influence the desaturation of fatty acids incorporated into sphingomyelins. This altered lipid profile is associated with hypercholesterolemia, valvular heart disease, and asthma, likely through effects on inflammation and lipid metabolism.7[1], 8[2], 9[3], 10[4], 11[5], 12[6]

Phenotype Driver:

Gene-centric:FADS1

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