isobutyrylglycine to betaine

Numerator Metabolite

Structure of isobutyrylglycine
Metabolite Accession: GCST90199798
Name: isobutyrylglycine
Hmdb Id: HMDB0000730
Super Pathway: NA
Sub Pathway: NA
Inchikey: DCICDMMXFIELDF

Denominator Metabolite

Structure of betaine
Metabolite Accession: GCST90200425
Name: betaine
Hmdb Id: HMDB0000043
Super Pathway: NA
Sub Pathway: NA
Inchikey: KWIUHFFTVRNATP

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):
0.382
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
16.393
Reference Allele:
C
-log10(P):
-137.386
MAF:
0.316
Beta (Num):
0.226
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.156
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:

Valine catabolism, fatty acid metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Choline oxidation, one-carbon metabolism.7[1], 8[2]

Ratio Explanation:

This ratio may reflect impaired nitrogen disposal via the urea cycle (CPS1) and altered one-carbon metabolism, impacting kidney function and cholelithiasis risk.9[1], 10[2], 11[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

The CPS1 missense variant likely impairs the urea cycle, a key process for nitrogen waste disposal, directly linking to kidney dysfunction phenotypes (renal failure, chronic kidney disease) and altered liver metabolism, which can contribute to cholelithiasis.12[1], 11[2], 13[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