picolinate to isobutyrylglycine

Numerator Metabolite

Structure of picolinate
Metabolite Accession: GCST90200282
Name: picolinate
Hmdb Id: HMDB0002243
Super Pathway: NA
Sub Pathway: NA
Inchikey: SIOXPEMLGUPBBT

Denominator Metabolite

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

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):
-0.331
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-14.526
Reference Allele:
C
-log10(P):
-108.410
MAF:
0.306
Beta (Num):
-0.105
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
0.226
SE (Den):
0.017
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Tryptophan metabolism, Kynurenine pathway3[1], 4[2]

Denominator Metabolite Explanation:

Valine catabolism, Branched-chain amino acid degradation5[1], 6[2], 7[3]

Ratio Explanation:

An elevated picolinate to isobutyrylglycine ratio suggests altered tryptophan and valine metabolism, but a direct link to CPS1 function is not established.

Ratio Evidence:

metabolites unrelated

Gene Ratio Phenotype Relationship:

The association of the ratio with cholelithiasis and kidney disease may be driven by CPS1 dysfunction.1[1] Impaired ammonia clearance due to CPS1 variants can lead to systemic toxicity, potentially affecting liver and kidney function, which are linked to the observed phenotypes.

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