n-acetyl-isoputreanine to butyrylcarnitine (c4)

Numerator Metabolite

Structure of n-acetyl-isoputreanine
Metabolite Accession: GCST90200195
Name: n-acetyl-isoputreanine
Hmdb Id: HMDB0094713
Super Pathway: NA
Sub Pathway: NA
Inchikey: YGIAGXACEXFIDU

Denominator Metabolite

Structure of butyrylcarnitine (c4)
Metabolite Accession: GCST90200673
Name: butyrylcarnitine (c4)
Hmdb Id: HMDB0002013
Super Pathway: NA
Sub Pathway: NA
Inchikey: QWYFHHGCZUCMBN

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):
0.339
Position:
160564476
SE (Ratio):
0.028
Effect Allele:
G
Z-score (Ratio):
11.905
Reference Allele:
C
-log10(P):
-73.575
MAF:
0.175
Beta (Num):
0.138
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.200
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 metabolism.6[1], 7[2], 8[3]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.9[1], 10[2]

Ratio Explanation:

The ratio likely reflects SLC22A1 transport activity, where reduced function could impair clearance of both N-acetyl-isoputreanine and butyrylcarnitine, altering their relative levels.2[1], 3[2], 5[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced SLC22A1 function is linked to higher LDL cholesterol and ischemic heart disease.11[1], 12[2], 13[3] Impaired SLC22A1-mediated clearance of metabolites like acylcarnitines may contribute to dyslipidemia and cardiovascular pathology, with the ratio reflecting this transport inefficiency.11[4], 5[5], 13[6]

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