sphingomyelin (d18:1/20:0, d16:1/22:0)* to behenoyl dihydrosphingomyelin (d18:0/22:0)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/20:0, d16:1/22:0)*
Metabolite Accession: GCST90200001
Name: sphingomyelin (d18:1/20:0, d16:1/22:0)*
Hmdb Id: HMDB0012102
Super Pathway: NA
Sub Pathway: NA
Inchikey: AADLTHQNYQJHQV

Denominator 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

Associated Genomic Regions

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):
0.398
Position:
64232386
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
17.568
Reference Allele:
G
-log10(P):
-157.405
MAF:
0.164
Beta (Num):
0.300
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.098
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:

Sphingomyelin synthesis, ceramide metabolism.8[1], 9[2], 10[3], 11[4]

Denominator Metabolite Explanation:

Sphingolipid biosynthesis, ceramide metabolism.12[1], 13[2], 14[3], 15[4]

Ratio Explanation:

This ratio may reflect the balance between de novo sphingolipid synthesis and its conversion, potentially influenced by HNF1A's regulatory role in lipid metabolism.5[1], 6[2], 7[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

HNF1A variants may alter its transcriptional control over genes in sphingolipid pathways, affecting the sphingomyelin to dihydrosphingomyelin balance. This dysregulation is associated with hypercholesterolemia and cholelithiasis, potentially through altered lipid metabolism and transport.16[1], 17[2], 18[3], 19[4], 20[5], 21[6]

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