stearoyl sphingomyelin (d18:1/18:0) to n-stearoyl-sphinganine (d18:0/18:0)*

Numerator Metabolite

Structure of stearoyl sphingomyelin (d18:1/18:0)
Metabolite Accession: GCST90200335
Name: stearoyl sphingomyelin (d18:1/18:0)
Hmdb Id: HMDB0001348
Super Pathway: NA
Sub Pathway: NA
Inchikey: LKQLRGMMMAHREN

Denominator Metabolite

Structure of n-stearoyl-sphinganine (d18:0/18:0)*
Metabolite Accession: GCST90200448
Name: n-stearoyl-sphinganine (d18:0/18:0)*
Hmdb Id: HMDB0011761
Super Pathway: NA
Sub Pathway: NA
Inchikey: KZTJQXAANJHSCE

Associated Genomic Regions

Region: rs2393791

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:
12
Beta (Ratio):
-0.150
Position:
121423956
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
-7.769
Reference Allele:
T
-log10(P):
-32.468
MAF:
0.382
Beta (Num):
-0.080
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.071
SE (Den):
0.018
No CNV overlap
rQTL cluster:
49
Reaction Distance:
NA
Closest Genes:
HNF1A AC079602.1 C12orf43 OASL SPPL3

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.6[1], 7[2], 8[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism.6[1], 7[2], 8[3]

Ratio Explanation:

This ratio reflects the conversion of n-stearoyl-sphinganine (a dihydroceramide) to stearoyl sphingomyelin, a key maturation step in the de novo sphingolipid synthesis pathway.9[1], 10[2], 6[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

HNF1A likely regulates genes in sphingolipid synthesis; altered activity, reflected by the ratio, may impact hepatic lipid and cholesterol metabolism, contributing to the increased risk of cholelithiasis and cardiovascular disease.1[1], 11[2], 12[3], 13[4]

Phenotype Driver:

Gene-centric:[HNF1A]

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