sphingomyelin (d18:1/18:1, d18:2/18:0) to behenoyl dihydrosphingomyelin (d18:0/22:0)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/18:1, d18:2/18:0)
Metabolite Accession: GCST90199878
Name: sphingomyelin (d18:1/18:1, d18:2/18:0)
Hmdb Id: HMDB0012101
Super Pathway: NA
Sub Pathway: NA
Inchikey: NBEADXWAAWCCDG

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: rs7310409

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):
-0.196
Position:
121424861
SE (Ratio):
0.020
Effect Allele:
A
Z-score (Ratio):
-9.889
Reference Allele:
G
-log10(P):
-51.420
MAF:
0.382
Beta (Num):
-0.088
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.108
SE (Den):
0.016
No CNV overlap
rQTL cluster:
49
Reaction Distance:
NA
Closest Genes:
HNF1A AC079602.1 C12orf43 OASL SPPL3

LLM Analysis

Numerator Metabolite Explanation:

Sphingomyelin biosynthesis

Denominator Metabolite Explanation:

Sphingomyelin biosynthesis

Ratio Explanation:

The ratio may reflect altered sphingolipid metabolism, potentially due to HNF1A's influence on enzymes in this pathway, affecting the balance between different sphingomyelin species.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

HNF1A gene variants are associated with cholelithiasis, and altered sphingomyelin levels are linked to cardiovascular disease.4[1], 5[2] The ratio likely reflects HNF1A-driven changes in hepatic sphingolipid metabolism, contributing to gallstone formation and potentially impacting cardiovascular health through altered lipid profiles.6[3], 7[4], 8[5], 9[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