sphingomyelin (d18:1/18:1, d18:2/18:0) to deoxycarnitine

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 deoxycarnitine
Metabolite Accession: GCST90199813
Name: deoxycarnitine
Hmdb Id: HMDB0001161
Super Pathway: NA
Sub Pathway: NA
Inchikey: JHPNVNIEXXLNTR

Associated Genomic Regions

Region: rs7139079

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):
-0.168
Position:
121415293
SE (Ratio):
0.020
Effect Allele:
G
Z-score (Ratio):
-8.474
Reference Allele:
A
-log10(P):
-38.283
MAF:
0.408
Beta (Num):
-0.088
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.079
SE (Den):
0.014
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]

Denominator Metabolite Explanation:

Carnitine biosynthesis, fatty acid metabolism.8[1], 9[2]

Ratio Explanation:

The ratio may reflect HNF1A's influence on hepatic lipid and carnitine metabolism, where altered function could impact both pathways, although a direct link is unestablished.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

HNF1A dysfunction is linked to dyslipidemia and myocardial infarction.10[1], 11[2], 12[3], 13[4] Altered sphingomyelin levels are also associated with myocardial infarction, suggesting a gene-driven mechanism where HNF1A variants alter lipid profiles, including sphingomyelins, increasing cardiovascular risk.14[5], 15[6], 16[7], 17[8]

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