palmitoyl-sphingosine-phosphoethanolamine (d18:1/16:0) to palmitoyl dihydrosphingomyelin (d18:0/16:0)*

Numerator Metabolite

Metabolite Accession: GCST90200237
Name: palmitoyl-sphingosine-phosphoethanolamine (d18:1/16:0)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Metabolite Accession: GCST90200035
Name: palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Hmdb Id: HMDB0010168
Super Pathway: NA
Sub Pathway: NA
Inchikey: QHZIGNLCLJPLCU

Associated Genomic Regions

Region: rs61732863

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
-0.463
Position:
224377996
SE (Ratio):
0.061
Effect Allele:
G
Z-score (Ratio):
-7.571
Reference Allele:
A
-log10(P):
-30.931
MAF:
0.012
Beta (Num):
-0.208
Novel Locus:
Yes ✔️
SE (Num):
0.069
Beta (Den):
0.255
SE (Den):
0.065
No CNV overlap
rQTL cluster:
275
Reaction Distance:
NA
Closest Genes:
DEGS1 FBXO28 NVL AC138393.1 CNIH4

Region: rs7157785

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:
14
Beta (Ratio):
0.230
Position:
64235556
SE (Ratio):
0.018
Effect Allele:
T
Z-score (Ratio):
12.553
Reference Allele:
G
-log10(P):
-81.546
MAF:
0.166
Beta (Num):
0.044
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.186
SE (Den):
0.020
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis

Denominator Metabolite Explanation:

Sphingolipid biosynthesis

Ratio Explanation:

The ratio reflects the conversion of a dihydrosphingolipid to its unsaturated counterpart. Reduced DEGS1 function would increase the ratio's denominator, dihydroceramide, and decrease the numerator's precursor, ceramide.3[1], 4[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced DEGS1 activity alters the balance of sphingolipids, which can lead to dyslipidemia.2[1], 5[2] This disruption in lipid metabolism, particularly the accumulation of certain sphingolipid species, has been linked to disorders of lipoprotein metabolism and may influence triglyceride and HbA1c levels.2[3], 5[4], 6[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