sphingomyelin (d18:1/20:1, d18:2/20:0)* to deoxycarnitine

Numerator Metabolite

Metabolite Accession: GCST90199996
Name: sphingomyelin (d18:1/20:1, d18:2/20:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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: rs2255531

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
12
Beta (Ratio):
-0.171
Position:
121414915
SE (Ratio):
0.020
Effect Allele:
A
Z-score (Ratio):
-8.522
Reference Allele:
G
-log10(P):
-38.697
MAF:
0.347
Beta (Num):
-0.081
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.090
SE (Den):
0.015
No CNV overlap
rQTL cluster:
49
Reaction Distance:
NA
Closest Genes:
HNF1A AC079602.1 C12orf43 OASL SPPL3

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism, ceramide synthesis.4[1], 5[2], 6[3], 7[4]

Denominator Metabolite Explanation:

Carnitine biosynthesis.8[1], 9[2], 10[3]

Ratio Explanation:

An elevated ratio of sphingomyelin to deoxycarnitine could indicate a shift in lipid metabolism, potentially influenced by HNF1A's regulatory role, though a direct link is not established.

Ratio Evidence:

metabolites unrelated

Gene Ratio Phenotype Relationship:

Altered HNF1A function can lead to dyslipidemia (changes in LDL and HDL cholesterol) and increased inflammatory markers like CRP, contributing to the development of hypertension.11[1], 12[2], 13[3], 14[4], 15[5], 16[6], 17[7], 18[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