hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to glycosyl ceramide (d18:2/24:1, d18:1/24:2)*

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

Metabolite Accession: GCST90200118
Name: glycosyl ceramide (d18:2/24:1, d18:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174564

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:
11
Beta (Ratio):
0.306
Position:
61588305
SE (Ratio):
0.016
Effect Allele:
G
Z-score (Ratio):
19.235
Reference Allele:
A
-log10(P):
-188.169
MAF:
0.344
Beta (Num):
0.277
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.029
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.4[1], 5[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.6[1], 7[2], 8[3]

Ratio Explanation:

The ratio reflects the balance between different branches of sphingolipid metabolism, potentially influenced by FADS desaturase activity on the fatty acid side chains.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

FADS1/FADS2 variants influence desaturase activity, altering sphingolipid composition and overall lipid profiles.9[1], 10[2] This dysregulation is a known risk factor for associated phenotypes such as cholelithiasis, dyslipidemia, and Type 2 diabetes.11[3], 12[4], 13[5], 14[6]

Phenotype Driver:

Gene-centric:FADS1/FADS2

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