hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to cholesterol

Numerator Metabolite

Metabolite Accession: GCST90200243
Name: hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))**
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

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

Associated Genomic Regions

Region: rs174560

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.329
Position:
61581764
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
19.151
Reference Allele:
T
-log10(P):
-186.555
MAF:
0.308
Beta (Num):
0.273
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.055
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.3[1], 4[2]

Denominator Metabolite Explanation:

Cholesterol biosynthesis, Mevalonate pathway.5[1], 6[2], 7[3], 8[4], 9[5]

Ratio Explanation:

The ratio reflects the interplay between sphingolipid and cholesterol metabolism.4[1] FADS1 variants influence both fatty acid and cholesterol levels, impacting this balance.10[2], 11[3], 12[4]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

FADS1 gene variants impact the metabolism of both sphingolipids and cholesterol.13[1], 14[2], 12[3] Altered FADS1 activity likely modifies the hydroxypalmitoyl sphingomyelin to cholesterol ratio, contributing to phenotypes like hypercholesterolemia and cholelithiasis, which are linked to disruptions in lipid metabolism.15[4], 10[5], 16[6]

Phenotype Driver:

Gene-centric:FADS1

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