arginine to threonine

Numerator Metabolite

Structure of arginine
Metabolite Accession: GCST90200372
Name: arginine
Hmdb Id: HMDB0000517
Super Pathway: NA
Sub Pathway: NA
Inchikey: ODKSFYDXXFIFQN

Denominator Metabolite

Structure of threonine
Metabolite Accession: GCST90200432
Name: threonine
Hmdb Id: HMDB0000167
Super Pathway: NA
Sub Pathway: NA
Inchikey: AYFVYJQAPQTCCC

Associated Genomic Regions

Region: rs2246012

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
0.230
Position:
131898208
SE (Ratio):
0.023
Effect Allele:
C
Z-score (Ratio):
10.196
Reference Allele:
T
-log10(P):
-54.536
MAF:
0.160
Beta (Num):
0.173
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.057
SE (Den):
0.021
No CNV overlap
rQTL cluster:
218
Reaction Distance:
5.0
Closest Genes:
MED23 ARG1 ENPP3 OR2A4 CTAGE9

Region: rs56335308

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Clumped rQTL variant

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SNP Summary

Chr:
8
Beta (Ratio):
-0.441
Position:
17419461
SE (Ratio):
0.054
Effect Allele:
A
Z-score (Ratio):
-8.202
Reference Allele:
G
-log10(P):
-35.985
MAF:
0.025
Beta (Num):
-0.238
Novel Locus:
Yes ✔️
SE (Num):
0.050
Beta (Den):
0.203
SE (Den):
0.050
No CNV overlap
rQTL cluster:
86
Reaction Distance:
5.0
Closest Genes:
SLC7A2 PDGFRL MTUS1 MTMR7 VPS37A

LLM Analysis

Numerator Metabolite Explanation:

Urea cycle, nitric oxide synthesis.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Protein synthesis, degradation to acetyl-CoA and glycine.6[1], 7[2], 8[3]

Ratio Explanation:

Elevated ratio suggests increased arginine availability or decreased threonine, potentially impacting nitric oxide production and protein synthesis, influenced by ARG1 activity.3[1], 1[2], 6[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in ARG1 can alter its enzymatic activity, leading to increased arginine levels.2[1], 9[2] This may promote hypertension and type 2 diabetes by affecting nitric oxide production and insulin signaling pathways.10[3], 11[4], 12[5], 13[6]

Phenotype Driver:

Gene-centric:ARG1

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