n-stearoyl-sphingosine (d18:1/18:0)* to behenoyl dihydrosphingomyelin (d18:0/22:0)*

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 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

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Clumped rQTL variant

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SNP Summary

Chr:
12
Beta (Ratio):
-0.191
Position:
121424861
SE (Ratio):
0.019
Effect Allele:
A
Z-score (Ratio):
-10.140
Reference Allele:
G
-log10(P):
-53.962
MAF:
0.382
Beta (Num):
-0.083
Novel Locus:
No
SE (Num):
0.016
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

Region: rs12897637

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Clumped rQTL variant

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SNP Summary

Chr:
14
Beta (Ratio):
0.230
Position:
64239351
SE (Ratio):
0.024
Effect Allele:
C
Z-score (Ratio):
9.400
Reference Allele:
T
-log10(P):
-46.660
MAF:
0.166
Beta (Num):
0.132
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
-0.097
SE (Den):
0.020
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Sphingolipid metabolism, sphingomyelin synthesis.7[1]

Ratio Explanation:

The ratio reflects the balance between ceramide and dihydrosphingomyelin pools, complex sphingolipids whose metabolism may be transcriptionally regulated by the transcription factor HNF1A.8[1], 1[2], 2[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered HNF1A function dysregulates hepatic lipid metabolism, reflected by the sphingolipid ratio.1[1], 2[2], 9[3] This contributes to changes in bile acid and cholesterol, leading to cholelithiasis and dyslipidemia, which are risk factors for myocardial infarction.10[4], 11[5], 12[6], 13[7], 14[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