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

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 palmitoyl sphingomyelin (d18:1/16:0)
Metabolite Accession: GCST90199876
Name: palmitoyl sphingomyelin (d18:1/16:0)
Hmdb Id: HMDB0010169
Super Pathway: NA
Sub Pathway: NA
Inchikey: RWKUXQNLWDTSLO

Associated Genomic Regions

Region: rs102275

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):
0.256
Position:
61557803
SE (Ratio):
0.011
Effect Allele:
C
Z-score (Ratio):
23.668
Reference Allele:
T
-log10(P):
-283.481
MAF:
0.347
Beta (Num):
0.272
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.016
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 metabolism4[1], 5[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism4[1], 5[2]

Ratio Explanation:

The ratio reflects the hydroxylation of palmitoyl sphingomyelin, a process potentially influenced by FADS1 activity and indicative of altered sphingolipid metabolism.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1 gene variants are linked to altered lipid profiles and an increased risk for inflammatory conditions like IBD and metabolic disorders such as type 2 diabetes6[1], 7[2], 8[3], 9[4], potentially through changes in sphingolipid composition, which is associated with valvular heart disease.10[5], 11[6], 12[7], 13[8]

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