histidine to isovalerylglycine

Numerator Metabolite

Structure of histidine
Metabolite Accession: GCST90200377
Name: histidine
Hmdb Id: HMDB0000177
Super Pathway: NA
Sub Pathway: NA
Inchikey: HNDVDQJCIGZPNO

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):
-0.314
Position:
211540507
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-14.224
Reference Allele:
C
-log10(P):
-104.040
MAF:
0.310
Beta (Num):
-0.094
Novel Locus:
No
SE (Num):
0.017
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:

Histidine catabolism, decarboxylation to histamine.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Leucine catabolism, glycine conjugation.7[1], 8[2], 9[3]

Ratio Explanation:

Reduced CPS1 function can increase ammonia, potentially shunting substrates towards histidine production, while isovalerylglycine reflects leucine breakdown, indicating a complex interplay between nitrogen metabolism pathways.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced CPS1 function is associated with renal failure and cholelithiasis.10[1], 11[2], 12[3], 13[4] Impaired urea synthesis can lead to kidney stress. Altered nitrogen and amino acid metabolism may contribute to the formation of gallstones.14[5]

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