sphingomyelin (d18:2/24:1, d18:1/24:2)* to glycosyl ceramide (d18:2/24:1, d18:1/24:2)*

Numerator Metabolite

Metabolite Accession: GCST90200040
Name: sphingomyelin (d18:2/24:1, d18:1/24:2)*
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: rs35818294

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Clumped rQTL variant

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SNP Summary

Chr:
4
Beta (Ratio):
-0.289
Position:
47545141
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
-21.042
Reference Allele:
C
-log10(P):
-224.655
MAF:
0.176
Beta (Num):
0.022
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.311
SE (Den):
0.019
No CNV overlap
rQTL cluster:
126
Reaction Distance:
NA
Closest Genes:
ATP10D CORIN COMMD8 GABRB1 NFXL1

Region: rs321631

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Clumped rQTL variant

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SNP Summary

Chr:
4
Beta (Ratio):
-0.105
Position:
48018229
SE (Ratio):
0.011
Effect Allele:
G
Z-score (Ratio):
-9.730
Reference Allele:
A
-log10(P):
-49.844
MAF:
0.379
Beta (Num):
0.008
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.113
SE (Den):
0.015
No CNV overlap
rQTL cluster:
125
Reaction Distance:
NA
Closest Genes:
NIPAL1 CNGA1 TXK NFXL1 TEC

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Glycosphingolipid biosynthesis.6[1], 7[2], 8[3]

Ratio Explanation:

This ratio may reflect the partitioning of ceramide between sphingomyelin and glucosylceramide synthesis pathways.5[1], 9[2], 10[3] ATP10D specifically transports the denominator, potentially influencing this balance.1[4], 2[5], 11[6]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

No phenotype association was provided; therefore, a causal link between the genetic factors, the metabolic ratio, and a phenotype cannot be established.

Phenotype Driver:

none

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