picolinate to isovalerylglycine

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 isovalerylglycine
Metabolite Accession: GCST90199785
Name: isovalerylglycine
Hmdb Id: HMDB00678
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZRQXMKMBBMNNQC

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):
-0.324
Position:
211540507
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-14.417
Reference Allele:
C
-log10(P):
-106.820
MAF:
0.306
Beta (Num):
-0.105
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
0.219
SE (Den):
0.018
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Tryptophan metabolism.5[1]

Denominator Metabolite Explanation:

Leucine catabolism, glycine conjugation.6[1]

Ratio Explanation:

The ratio may reflect altered nitrogen flux from tryptophan and leucine catabolism due to impaired urea cycle function driven by the `CPS1` variant.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

A `CPS1` variant may impair the urea cycle, leading to hyperammonemia and downstream effects on the kidneys (renal failure, CKD) and liver (cholelithiasis), organs central to nitrogen metabolism and waste excretion.1[1], 7[2], 8[3], 9[4]

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