myristoyl dihydrosphingomyelin (d18:0/14:0)* to sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0)*

Numerator Metabolite

Structure of myristoyl dihydrosphingomyelin (d18:0/14:0)*
Metabolite Accession: GCST90200049
Name: myristoyl dihydrosphingomyelin (d18:0/14:0)*
Hmdb Id: HMDB0012085
Super Pathway: NA
Sub Pathway: NA
Inchikey: MJAFYELZQYPMQG

Denominator Metabolite

Metabolite Accession: GCST90200053
Name: sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs4902243

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):
-0.342
Position:
64234243
SE (Ratio):
0.018
Effect Allele:
G
Z-score (Ratio):
-18.718
Reference Allele:
A
-log10(P):
-178.348
MAF:
0.166
Beta (Num):
-0.033
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.310
SE (Den):
0.019
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Sphingolipid metabolism.7[1], 4[2], 5[3], 6[4]

Ratio Explanation:

The ratio of myristoyl dihydrosphingomyelin to sphingomyelin reflects the balance between saturated and unsaturated sphingolipid species, potentially indicating altered flux through sphingolipid metabolic pathways.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

SGPP1 dysregulation likely alters sphingolipid metabolism, reflected in the dihydrosphingomyelin to sphingomyelin ratio. This imbalance contributes to disorders of lipoprotein metabolism, affecting triglycerides and HbA1c, key markers of metabolic health.8[1], 9[2], 10[3], 11[4], 12[5]

Phenotype Driver:

Gene-centric:SGPP1

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