hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to lactosyl-n-nervonoyl-sphingosine (d18:1/24:1)*

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 lactosyl-n-nervonoyl-sphingosine (d18:1/24:1)*
Metabolite Accession: GCST90200098
Name: lactosyl-n-nervonoyl-sphingosine (d18:1/24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: MKOKWBRPIBQYJJ

Associated Genomic Regions

Region: rs174533

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
11
Beta (Ratio):
0.337
Position:
61549025
SE (Ratio):
0.016
Effect Allele:
A
Z-score (Ratio):
21.740
Reference Allele:
G
-log10(P):
-239.622
MAF:
0.339
Beta (Num):
0.277
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.060
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Glycosphingolipid biosynthesis.8[1], 9[2]

Ratio Explanation:

The ratio reflects the balance between sphingomyelin and lactosylceramide pathways.5[1], 8[2] FADS1's role in providing fatty acid precursors may influence this balance.1[3], 10[4]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1 influences fatty acid desaturation, affecting the composition of complex lipids like sphingomyelins and glycosphingolipids.1[1], 10[2] This alteration in lipid metabolism is linked to phenotypes like hypercholesterolemia, cholelithiasis, and inflammatory conditions such as asthma.3[3], 4[4], 11[5]

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