n-acetyl-isoputreanine to betaine

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 betaine
Metabolite Accession: GCST90200425
Name: betaine
Hmdb Id: HMDB0000043
Super Pathway: NA
Sub Pathway: NA
Inchikey: KWIUHFFTVRNATP

Associated Genomic Regions

Region: rs662138

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
0.291
Position:
160564476
SE (Ratio):
0.027
Effect Allele:
G
Z-score (Ratio):
10.837
Reference Allele:
C
-log10(P):
-61.342
MAF:
0.175
Beta (Num):
0.138
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.152
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 catabolism4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Choline metabolism, One-carbon metabolism7[1], 8[2], 9[3]

Ratio Explanation:

The ratio likely reflects the transport activity of SLC22A1, which transports betaine's precursor, choline, and n-acetyl-isoputreanine's precursor, putrescine, from blood to liver.2[1], 10[2], 11[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced SLC22A1 function is linked to higher LDL cholesterol.12[1] Altered transport of choline (a betaine precursor) and polyamines could disrupt hepatic lipid metabolism, contributing to hypercholesterolemia and associated ischemic heart disease. The SOD2 pQTL suggests a role for oxidative stress.13[2], 14[3], 15[4], 16[5]

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