sphingomyelin (d18:2/24:1, d18:1/24:2)* to sphingomyelin (d17:1/14:0, d16:1/15:0)*

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: GCST90200169
Name: sphingomyelin (d17:1/14:0, d16:1/15:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs4814176

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):
-0.149
Position:
12959398
SE (Ratio):
0.016
Effect Allele:
T
Z-score (Ratio):
-9.102
Reference Allele:
C
-log10(P):
-43.869
MAF:
0.386
Beta (Num):
-0.068
Novel Locus:
Yes ✔️
SE (Num):
0.014
Beta (Den):
0.081
SE (Den):
0.014
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid synthesis/metabolism

Denominator Metabolite Explanation:

Sphingolipid synthesis/metabolism

Ratio Explanation:

The ratio compares sphingomyelins with very-long-chain fatty acids to those with shorter/odd-chain fatty acids, indicating altered hepatic fatty acid composition influenced by ISM1.3[1]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

ISM1 dysregulation alters hepatic lipid metabolism, impacting sphingomyelin composition.3[1], 4[2] This affects bile cholesterol solubility and lipoprotein metabolism, increasing risk for cholelithiasis, elevated ALT, and LDL-C.5[3], 6[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