hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to glycosyl-n-behenoyl-sphingadienine (d18:2/22:0)*

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

Metabolite Accession: GCST90200105
Name: glycosyl-n-behenoyl-sphingadienine (d18:2/22:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174549

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):
0.342
Position:
61571382
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
20.570
Reference Allele:
G
-log10(P):
-214.808
MAF:
0.304
Beta (Num):
0.275
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.067
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Sphingolipid metabolism.8[1], 9[2], 10[3]

Ratio Explanation:

The ratio reflects GBA2 activity; lower GBA2 function leads to accumulation of its substrate (glycosylceramides, the denominator) and reduced synthesis of downstream sphingomyelins (the numerator).3[1], 11[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Variants in GBA2 alter its enzymatic activity, dysregulating the ratio of sphingomyelin to glycosylceramide. This imbalance in sphingolipid metabolism is linked to inflammation and altered lipid homeostasis, contributing to phenotypes like hypercholesterolemia and asthma.3[1], 12[2], 10[3]

Phenotype Driver:

Gene-centric:GBA2

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