behenoyl dihydrosphingomyelin (d18:0/22:0)* to sphingomyelin (d18:0/20:0, d16:0/22:0)*

Numerator Metabolite

Structure of behenoyl dihydrosphingomyelin (d18:0/22:0)*
Metabolite Accession: GCST90200059
Name: behenoyl dihydrosphingomyelin (d18:0/22:0)*
Hmdb Id: HMDB0012091
Super Pathway: NA
Sub Pathway: NA
Inchikey: FONAXCRWZQFJHY

Denominator 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

Associated Genomic Regions

Region: rs438568

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:
20
Beta (Ratio):
-0.218
Position:
12958687
SE (Ratio):
0.008
Effect Allele:
A
Z-score (Ratio):
-26.872
Reference Allele:
G
-log10(P):
-364.576
MAF:
0.384
Beta (Num):
0.074
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.291
SE (Den):
0.015
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid de novo biosynthesis4[1], 5[2]

Denominator Metabolite Explanation:

Sphingolipid de novo biosynthesis6[1], 7[2], 4[3]

Ratio Explanation:

The ratio of behenoyl dihydrosphingomyelin to sphingomyelin reflects the activity of de novo sphingolipid synthesis, regulated by SPTLC3, relative to downstream ceramide desaturation/modification.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered SPTLC3 activity modifies the sphingolipid profile, which is linked to changes in cholesterol metabolism and biliary cholesterol concentration, thereby increasing the risk of cholelithiasis.8[1], 9[2], 10[3] This is supported by associations with LDL-C and ALT levels.

Phenotype Driver:

Gene-centric:SPTLC3

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