isovalerylglycine to homoarginine

Numerator Metabolite

Structure of isovalerylglycine
Metabolite Accession: GCST90199785
Name: isovalerylglycine
Hmdb Id: HMDB00678
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZRQXMKMBBMNNQC

Denominator Metabolite

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

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):
0.487
Position:
211540507
SE (Ratio):
0.025
Effect Allele:
A
Z-score (Ratio):
19.844
Reference Allele:
C
-log10(P):
-200.113
MAF:
0.314
Beta (Num):
0.219
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.267
SE (Den):
0.015
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Leucine catabolism, glycine conjugation.5[1], 6[2]

Denominator Metabolite Explanation:

Arginine and lysine metabolism, nitric oxide synthesis.7[1], 8[2], 9[3]

Ratio Explanation:

Impaired CPS1 function may indirectly affect related amino acid pathways, but a direct, well-established link explaining this specific ratio is not evident.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function leads to hyperammonemia, which can contribute to renal stress.10[1], 11[2], 12[3] Independently, altered homoarginine levels are associated with cardiovascular and renal dysfunction, and isovalerylglycine is linked to organic acidurias, but a consolidated pathway to cholelithiasis and kidney failure is not established.13[4], 5[5]

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