arginine to asparagine

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 asparagine
Metabolite Accession: GCST90200452
Name: asparagine
Hmdb Id: HMDB0000168
Super Pathway: NA
Sub Pathway: NA
Inchikey: DCXYFEDJOCDNAF

Associated Genomic Regions

Region: rs60218157

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Clumped rQTL variant

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SNP Summary

Chr:
8
Beta (Ratio):
-0.407
Position:
17424175
SE (Ratio):
0.054
Effect Allele:
C
Z-score (Ratio):
-7.578
Reference Allele:
A
-log10(P):
-30.979
MAF:
0.026
Beta (Num):
-0.221
Novel Locus:
Yes ✔️
SE (Num):
0.049
Beta (Den):
0.186
SE (Den):
0.048
No CNV overlap
rQTL cluster:
Reaction Distance:
2.0
Closest Genes:

LLM Analysis

Numerator Metabolite Explanation:

Urea cycle, nitric oxide synthesis, protein synthesis, creatine synthesis.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Amino acid metabolism, protein synthesis.7[1], 8[2], 9[3]

Ratio Explanation:

The ratio may reflect altered cellular arginine uptake by SLC7A2, impacting arginine's availability for nitric oxide synthesis relative to other amino acids.10[1], 3[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered SLC7A2 function from a missense variant likely impairs arginine transport, reducing substrate for nitric oxide synthase.11[1], 12[2] This leads to decreased nitric oxide (a vasodilator), which can cause increased vascular resistance, contributing to hypertension and elevated diastolic blood pressure.13[3], 14[4], 10[5]

Phenotype Driver:

Gene-centric:SLC7A2

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