carboxyethyl-gaba to (n(1) + n(8))-acetylspermidine

Numerator Metabolite

Structure of carboxyethyl-gaba
Metabolite Accession: GCST90199918
Name: carboxyethyl-gaba
Hmdb Id: HMDB0002201
Super Pathway: NA
Sub Pathway: NA
Inchikey: SRGQUICKDUQCKO

Denominator Metabolite

Structure of (n(1) + n(8))-acetylspermidine
Metabolite Accession: GCST90200153
Name: (n(1) + n(8))-acetylspermidine
Hmdb Id: HMDB0002189,HMDB0001276
Super Pathway: NA
Sub Pathway: NA
Inchikey: FONIWJIDLJEJTL

Associated Genomic Regions

Region: rs62492368

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:
7
Beta (Ratio):
0.407
Position:
150537635
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
18.330
Reference Allele:
G
-log10(P):
-171.139
MAF:
0.304
Beta (Num):
0.146
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.260
SE (Den):
0.016
No CNV overlap
rQTL cluster:
87
Reaction Distance:
NA
Closest Genes:
AOC1 TMEM176A TMEM176B GIMAP5 KCNH2

LLM Analysis

Numerator Metabolite Explanation:

Polyamine metabolism, GABA metabolism.5[1], 6[2]

Denominator Metabolite Explanation:

Polyamine Metabolism.7[1], 8[2], 9[3]

Ratio Explanation:

The ratio may reflect AOC1 activity, where lower AOC1 function could lead to increased upstream precursors ((n(1)+n(8))-acetylspermidine) and decreased downstream catabolites (carboxyethyl-gaba).

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced AOC1 activity can alter polyamine levels. Dysregulation of polyamine metabolism has been linked to diabetes, potentially through effects on insulin signaling or beta-cell function.10[1] This suggests a plausible link between AOC1 function, the metabolite ratio, and type 2 diabetes risk.

Phenotype Driver:

Gene-centric:AOC1

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