lactosyl-n-palmitoyl-sphingosine (d18:1/16:0) to glycosyl ceramide (d18:1/20:0, d16:1/22:0)*

Numerator Metabolite

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

Denominator Metabolite

Metabolite Accession: GCST90200145
Name: glycosyl ceramide (d18:1/20:0, d16:1/22:0)*
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):
0.146
Position:
114696488
SE (Ratio):
0.018
Effect Allele:
A
Z-score (Ratio):
7.924
Reference Allele:
C
-log10(P):
-33.707
MAF:
0.417
Beta (Num):
0.073
Novel Locus:
Yes ✔️
SE (Num):
0.016
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:

Sphingolipid metabolism.1[1], 3[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2]

Ratio Explanation:

This ratio may reflect the rate of conversion of glucosylceramide to lactosylceramide, where higher UGCG activity could increase the substrate pool for lactosylceramide synthesis.6[1], 7[2], 8[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Increased UGCG activity, potentially influenced by genetic factors, could alter the balance of sphingolipids, impacting cellular processes. Studies have shown UGCG is upregulated in monocytes during an immune response, which could relate to changes in monocyte count.9[1], 10[2] The link to calcium is less clear but may involve downstream signaling.

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