stearoyl sphingomyelin (d18:1/18:0) to behenoyl dihydrosphingomyelin (d18:0/22:0)*

Numerator Metabolite

Structure of stearoyl sphingomyelin (d18:1/18:0)
Metabolite Accession: GCST90200335
Name: stearoyl sphingomyelin (d18:1/18:0)
Hmdb Id: HMDB0001348
Super Pathway: NA
Sub Pathway: NA
Inchikey: LKQLRGMMMAHREN

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: rs2393791

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Clumped rQTL variant

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SNP Summary

Chr:
12
Beta (Ratio):
-0.188
Position:
121423956
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
-10.032
Reference Allele:
T
-log10(P):
-52.858
MAF:
0.382
Beta (Num):
-0.080
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: rs17101394

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:
14
Beta (Ratio):
0.278
Position:
64232386
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
11.407
Reference Allele:
G
-log10(P):
-67.723
MAF:
0.165
Beta (Num):
0.179
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.098
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.10[1], 11[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.10[1], 12[2]

Ratio Explanation:

The ratio reflects the balance between two sphingomyelin species, which can be influenced by HNF1A's regulation of lipid metabolism, impacting cholesterol and related disorders.2[1], 13[2], 4[3], 14[4], 15[5]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

HNF1A variants alter the expression of genes in sphingolipid metabolism, affecting the balance of sphingomyelin species.2[1], 3[2], 16[3], 17[4] This dysregulation is linked to an increased risk of hypercholesterolemia and cholelithiasis, likely through altered cholesterol transport and metabolism.1[5], 13[6], 4[7], 7[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