acisoga to methylsuccinoylcarnitine

Numerator Metabolite

Structure of acisoga
Metabolite Accession: GCST90199962
Name: acisoga
Hmdb Id: HMDB0061384
Super Pathway: NA
Sub Pathway: NA
Inchikey: OAUYENAPBFTAQT

Denominator Metabolite

Metabolite Accession: GCST90200089
Name: methylsuccinoylcarnitine
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs662138

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:
6
Beta (Ratio):
-0.362
Position:
160564476
SE (Ratio):
0.028
Effect Allele:
G
Z-score (Ratio):
-12.775
Reference Allele:
C
-log10(P):
-84.379
MAF:
0.171
Beta (Num):
-0.202
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
0.160
SE (Den):
0.020
No CNV overlap
rQTL cluster:
97
Reaction Distance:
NA
Closest Genes:
SLC22A1 SLC22A2 IGF2R SLC22A3 MAS1

LLM Analysis

Numerator Metabolite Explanation:

Polyamine catabolism.4[1], 5[2], 6[3], 7[4]

Denominator Metabolite Explanation:

Fatty acid and amino acid metabolism.8[1], 9[2], 10[3]

Ratio Explanation:

The ratio may reflect altered hepatic transport by SLC22A1, which can efflux acylcarnitines like methylsuccinoylcarnitine while being associated with pathways producing acisoga.11[1], 12[2], 13[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced SLC22A1 function is linked to altered lipid metabolism and higher LDL cholesterol.14[1], 15[2], 16[3] This transporter dysfunction, possibly reflected by the ratio of its substrate (methylsuccinoylcarnitine) to a metabolite from related pathways (acisoga), contributes to hypercholesterolemia and associated ischemic heart disease.

Phenotype Driver:

Gene-centric:SLC22A1

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