n-stearoyl-sphingosine (d18:1/18:0)* to n-stearoyl-sphinganine (d18:0/18:0)*

Numerator Metabolite

Structure of n-stearoyl-sphingosine (d18:1/18:0)*
Metabolite Accession: GCST90200341
Name: n-stearoyl-sphingosine (d18:1/18:0)*
Hmdb Id: HMDB0004950
Super Pathway: NA
Sub Pathway: NA
Inchikey: VODZWWMEJITOND

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):
-0.153
Position:
121423659
SE (Ratio):
0.016
Effect Allele:
A
Z-score (Ratio):
-9.423
Reference Allele:
G
-log10(P):
-46.881
MAF:
0.382
Beta (Num):
-0.082
Novel Locus:
Yes ✔️
SE (Num):
0.016
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.6[1], 7[2], 8[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism.9[1], 6[2], 10[3], 11[4]

Ratio Explanation:

This ratio reflects the activity of a desaturase enzyme in the ceramide synthesis pathway, converting the denominator (saturated) to the numerator (monounsaturated).

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

HNF1A variants are associated with cholelithiasis.5[1], 12[2], 13[3] HNF1A regulates sphingolipid metabolism genes.4[4] Altered sphingolipid metabolism, reflected by the ratio, could contribute to gallstone formation, potentially through effects on cholesterol and bile acid regulation.5[5], 14[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