butyrylglycine to betaine

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 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):
0.453
Position:
211540507
SE (Ratio):
0.025
Effect Allele:
A
Z-score (Ratio):
18.035
Reference Allele:
C
-log10(P):
-165.759
MAF:
0.323
Beta (Num):
0.297
Novel Locus:
No
SE (Num):
0.019
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:

Fatty acid metabolism.4[1]

Denominator Metabolite Explanation:

Choline metabolism, methyl donor.5[1], 6[2]

Ratio Explanation:

The ratio may reflect a metabolic shift where impaired urea cycle function (CPS1) influences both fatty acid and choline metabolism, although the direct link is unclear.7[1], 8[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function is linked to renal and liver-related phenotypes.9[1], 10[2], 11[3], 12[4] Both butyrylglycine and altered betaine metabolism are independently associated with chronic kidney disease, suggesting complex metabolic dysregulation.4[5], 13[6], 14[7], 15[8]

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