glycosyl-n-stearoyl-sphingosine (d18:1/18:0) to lactosyl-n-palmitoyl-sphingosine (d18:1/16:0)

Numerator Metabolite

Metabolite Accession: GCST90199846
Name: glycosyl-n-stearoyl-sphingosine (d18:1/18:0)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200055
Name: lactosyl-n-palmitoyl-sphingosine (d18:1/16:0)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1045989

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:
9
Beta (Ratio):
-0.157
Position:
114696488
SE (Ratio):
0.018
Effect Allele:
A
Z-score (Ratio):
-8.579
Reference Allele:
C
-log10(P):
-39.188
MAF:
0.417
Beta (Num):
-0.085
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.073
SE (Den):
0.016
No CNV overlap
rQTL cluster:
80
Reaction Distance:
NA
Closest Genes:
UGCG SUSD1 C9orf84 GNG10 DNAJC25-GNG10

LLM Analysis

Numerator Metabolite Explanation:

Glycosphingolipid biosynthesis

Denominator Metabolite Explanation:

Glycosphingolipid biosynthesis

Ratio Explanation:

The ratio reflects the relative activity of enzymes in glycosphingolipid metabolism, where UGCG plays a key role in the initial glycosylation step.1[1], 2[2], 6[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered sphingolipid metabolism, potentially influenced by UGCG activity, is linked to changes in monocyte function and calcium signaling.7[1], 8[2], 9[3], 10[4] Sphingolipids are crucial for immune cell signaling and calcium homeostasis, providing a plausible link to the observed phenotypes.7[5], 8[6], 9[7]

Phenotype Driver:

Gene-centric:UGCG

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