palmitoyl dihydrosphingomyelin (d18:0/16:0)* to palmitoyl sphingomyelin (d18:1/16:0)

Numerator 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

Denominator Metabolite

Structure of palmitoyl sphingomyelin (d18:1/16:0)
Metabolite Accession: GCST90199876
Name: palmitoyl sphingomyelin (d18:1/16:0)
Hmdb Id: HMDB0010169
Super Pathway: NA
Sub Pathway: NA
Inchikey: RWKUXQNLWDTSLO

Associated Genomic Regions

Region: rs61732863

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.426
Position:
224377996
SE (Ratio):
0.051
Effect Allele:
G
Z-score (Ratio):
8.361
Reference Allele:
A
-log10(P):
-37.316
MAF:
0.013
Beta (Num):
0.255
Novel Locus:
Yes ✔️
SE (Num):
0.065
Beta (Den):
-0.170
SE (Den):
0.066
No CNV overlap
rQTL cluster:
275
Reaction Distance:
NA
Closest Genes:
DEGS1 FBXO28 NVL AC138393.1 CNIH4

Region: rs17101394

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):
-0.252
Position:
64232386
SE (Ratio):
0.016
Effect Allele:
A
Z-score (Ratio):
-16.184
Reference Allele:
G
-log10(P):
-133.979
MAF:
0.164
Beta (Num):
-0.186
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.066
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 metabolism.1[1], 3[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.1[1], 3[2]

Ratio Explanation:

The ratio reflects DEGS1 activity; decreased function increases the substrate (palmitoyl dihydrosphingomyelin) relative to the product's downstream metabolite (palmitoyl sphingomyelin).1[1], 2[2]

Ratio Evidence:

canonical reaction catalyzed by the enzyme

Gene Ratio Phenotype Relationship:

Reduced DEGS1 activity alters sphingolipid balance, impacting triglyceride storage and glucose homeostasis, which is reflected in elevated HbA1c and triglyceride levels.4[1], 5[2], 6[3], 7[4]

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