cholesterol to palmitoyl dihydrosphingomyelin (d18:0/16:0)*

Numerator Metabolite

Structure of cholesterol
Metabolite Accession: GCST90200368
Name: cholesterol
Hmdb Id: HMDB0000067
Super Pathway: NA
Sub Pathway: NA
Inchikey: HVYWMOMLDIMFJA

Denominator Metabolite

Structure of palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Metabolite Accession: GCST90200035
Name: palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Hmdb Id: HMDB0010168
Super Pathway: NA
Sub Pathway: NA
Inchikey: QHZIGNLCLJPLCU

Associated Genomic Regions

Region: rs7157785

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):
0.207
Position:
64235556
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
11.001
Reference Allele:
G
-log10(P):
-63.142
MAF:
0.166
Beta (Num):
0.021
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.186
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:

Steroid biosynthesis5[1], 6[2], 7[3], 8[4], 9[5]

Denominator Metabolite Explanation:

Sphingolipid metabolism1[1], 10[2], 11[3], 12[4]

Ratio Explanation:

The ratio of cholesterol to palmitoyl dihydrosphingomyelin reflects the balance between two major lipid metabolic pathways that are crucial for cell membrane composition and function.13[1], 14[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

SGPP1 influences sphingolipid metabolism, which is linked to lipoprotein metabolism and insulin resistance.15[1], 16[2] Altered SGPP1 function can disrupt the cholesterol/sphingomyelin balance, contributing to dyslipidemia (affecting triglycerides) and potentially impacting glucose homeostasis (HbA1c levels) through its role in lipid signaling.17[3], 18[4], 19[5]

Phenotype Driver:

Gene-centric:SGPP1

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