butyrylglycine to homoarginine

Numerator Metabolite

Structure of butyrylglycine
Metabolite Accession: GCST90199706
Name: butyrylglycine
Hmdb Id: HMDB0000808
Super Pathway: NA
Sub Pathway: NA
Inchikey: WPSSBBPLVMTKRN

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):
0.564
Position:
211540507
SE (Ratio):
0.026
Effect Allele:
A
Z-score (Ratio):
21.770
Reference Allele:
C
-log10(P):
-240.281
MAF:
0.323
Beta (Num):
0.297
Novel Locus:
No
SE (Num):
0.019
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:

Fatty acid metabolism, glycine metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Arginine and lysine metabolism, urea cycle.6[1], 7[2]

Ratio Explanation:

Elevated butyrylglycine relative to homoarginine may indicate a shift from urea cycle function towards fatty acid metabolism, although the direct link is not established.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

A missense variant in *CPS1* could impair urea cycle function, leading to metabolic dysregulation that contributes to the development of cholelithiasis, a condition associated with altered bile composition and liver function. Downregulation of *CPS1* has been observed in intrahepatic cholangiocarcinoma.8[1]

Phenotype Driver:

Gene-centric:CPS1 1148-264-785-783-2980

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