propionylglycine to betaine

Numerator Metabolite

Structure of propionylglycine
Metabolite Accession: GCST90199705
Name: propionylglycine
Hmdb Id: HMDB0000783
Super Pathway: NA
Sub Pathway: NA
Inchikey: WOMAZEJKVZLLFE

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

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Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
0.515
Position:
211540507
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
21.732
Reference Allele:
C
-log10(P):
-239.452
MAF:
0.321
Beta (Num):
0.359
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:

Fatty acid metabolism, Propionate metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Choline metabolism, One-carbon metabolism.7[1], 8[2], 9[3]

Ratio Explanation:

Reduced CPS1 function can impact glycine levels, which is a precursor for both propionylglycine and betaine, potentially altering their balance and downstream metabolic processes.10[1], 11[2], 12[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 activity is linked to altered glycine and betaine metabolism and an increased risk for chronic kidney disease and cholelithiasis, likely through interconnected pathways involving nitrogen homeostasis, one-carbon metabolism, and potentially altered bile composition.10[1], 13[2], 14[3], 15[4], 16[5], 17[6]

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