sphingomyelin (d18:0/20:0, d16:0/22:0)* to sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*

Numerator Metabolite

Metabolite Accession: GCST90200123
Name: sphingomyelin (d18:0/20:0, d16:0/22:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*
Metabolite Accession: GCST90200134
Name: sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: JONXXLXMISNQNG

Associated Genomic Regions

Region: rs55664906

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:
1
Beta (Ratio):
-0.151
Position:
224355682
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
-10.012
Reference Allele:
C
-log10(P):
-52.655
MAF:
0.401
Beta (Num):
-0.115
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.035
SE (Den):
0.016
No CNV overlap
rQTL cluster:
153
Reaction Distance:
NA
Closest Genes:
FBXO28 DEGS1 NVL AC138393.1 CNIH4

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2], 6[3]

Ratio Explanation:

The ratio reflects DEGS1 enzyme efficiency, comparing sphingomyelins derived from its substrate (dihydroceramide) to those from its product (ceramide), indicating altered sphingolipid biosynthesis.1[1], 2[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants linked to DEGS1 likely alter its desaturase activity, which modifies the sphingolipid composition of red blood cell membranes.1[1], 7[2] This affects erythrocyte properties, leading to changes in red blood cell count, mean corpuscular volume, and mean corpuscular hemoglobin.7[3], 8[4], 9[5]

Phenotype Driver:

Gene-centric:DEGS1

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