sphingomyelin (d18:2/16:0, d18:1/16:1)* to sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*

Numerator Metabolite

Metabolite Accession: GCST90199947
Name: sphingomyelin (d18:2/16:0, d18:1/16:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Metabolite Accession: GCST90200010
Name: sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Hmdb Id: HMDB0012104
Super Pathway: NA
Sub Pathway: NA
Inchikey: VBFKEZGCUWHGSK

Associated Genomic Regions

Region: rs1321940

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:
20
Beta (Ratio):
-0.156
Position:
12959885
SE (Ratio):
0.012
Effect Allele:
A
Z-score (Ratio):
-13.027
Reference Allele:
G
-log10(P):
-87.650
MAF:
0.386
Beta (Num):
-0.073
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.083
SE (Den):
0.015
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.2[1], 3[2], 4[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism.2[1], 3[2], 4[3]

Ratio Explanation:

The ratio reflects the balance of specific sphingomyelin species, which can be influenced by ISM1's role in overall lipid metabolism.1[1], 4[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

ISM1's role in lipid and glucose metabolism may influence sphingomyelin profiles and is associated with cholelithiasis, which is linked to cholesterol and lipid imbalances.1[1], 5[2] The elevated ALT and LDL-cholesterol further support a link between ISM1-mediated metabolic changes and hepatobiliary phenotypes.6[3], 7[4]

Phenotype Driver:

Gene-centric:ISM1

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