n-stearoyl-sphingadienine (d18:2/18:0)* to n-stearoyl-sphinganine (d18:0/18:0)*

Numerator Metabolite

Structure of n-stearoyl-sphingadienine (d18:2/18:0)*
Metabolite Accession: GCST90200111
Name: n-stearoyl-sphingadienine (d18:2/18:0)*
Hmdb Id: HMDB0240362
Super Pathway: NA
Sub Pathway: NA
Inchikey: LBBFOWQGVUEADU

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: rs9738226

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):
-0.141
Position:
121423659
SE (Ratio):
0.019
Effect Allele:
A
Z-score (Ratio):
-7.468
Reference Allele:
G
-log10(P):
-30.138
MAF:
0.378
Beta (Num):
-0.070
Novel Locus:
Yes ✔️
SE (Num):
0.017
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.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism, Ceramide biosynthesis.5[1], 8[2], 9[3]

Ratio Explanation:

This ratio reflects ceramide desaturation. HNF1A, a transcription factor, likely influences this ratio by regulating enzymes involved in sphingolipid metabolic pathways.1[1], 2[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

HNF1A variants alter sphingolipid metabolism, reflected by the ceramide ratio. This dysregulation, potentially alongside effects on cholesterol and bile acid transport, increases the risk for cholelithiasis and is associated with risk factors for myocardial infarction.10[1], 1[2], 3[3], 4[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