homoarginine to n-acetylglycine

Numerator Metabolite

Structure of homoarginine
Metabolite Accession: GCST90199675
Name: homoarginine
Hmdb Id: HMDB0000670
Super Pathway: NA
Sub Pathway: NA
Inchikey: QUOGESRFPZDMMT

Denominator Metabolite

Structure of n-acetylglycine
Metabolite Accession: GCST90199688
Name: n-acetylglycine
Hmdb Id: HMDB0000532
Super Pathway: NA
Sub Pathway: NA
Inchikey: OKJIRPAQVSHGFK

Associated Genomic Regions

Region: rs1047891

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:
2
Beta (Ratio):
-0.649
Position:
211540507
SE (Ratio):
0.025
Effect Allele:
A
Z-score (Ratio):
-25.831
Reference Allele:
C
-log10(P):
-337.090
MAF:
0.309
Beta (Num):
-0.267
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.381
SE (Den):
0.016
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Urea cycle, Arginine and proline metabolism

Denominator Metabolite Explanation:

Glycine metabolism, acetyl-CoA metabolism11[1], 12[2], 13[3]

Ratio Explanation:

The ratio may reflect altered CPS1 activity, impacting the urea cycle (homoarginine) and acetyl-CoA metabolism (N-acetylglycine), but a direct enzymatic link is not established.14[1], 15[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function due to genetic variation could lead to urea cycle dysregulation, affecting homoarginine levels, and potentially contributing to renal dysfunction and cholelithiasis, phenotypes where altered nitrogen metabolism is implicated.1[1], 2[2], 16[3]

Phenotype Driver:

Gene-centric:CPS1

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