cinnamoylglycine to homoarginine

Numerator Metabolite

Structure of cinnamoylglycine
Metabolite Accession: GCST90199888
Name: cinnamoylglycine
Hmdb Id: HMDB0011621
Super Pathway: NA
Sub Pathway: NA
Inchikey: YAADMLWHGMUGQL

Denominator Metabolite

Structure of homoarginine
Metabolite Accession: GCST90199675
Name: homoarginine
Hmdb Id: HMDB0000670
Super Pathway: NA
Sub Pathway: NA
Inchikey: QUOGESRFPZDMMT

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):
0.475
Position:
211540507
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
19.490
Reference Allele:
C
-log10(P):
-193.126
MAF:
0.312
Beta (Num):
0.208
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.267
SE (Den):
0.015
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Glycine conjugation, Phenylpropanoid biosynthesis

Denominator Metabolite Explanation:

Urea cycle, Lysine degradation6[1], 7[2]

Ratio Explanation:

An increased ratio of cinnamoylglycine to homoarginine may indicate impaired renal clearance and altered nitrogen metabolism, potentially influenced by CPS1 activity.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function can impair the urea cycle, affecting nitrogen balance.1[1], 2[2], 3[3], 4[4], 5[5] This, combined with the accumulation of cinnamoylglycine and decreased homoarginine in renal dysfunction, may contribute to the pathogenesis of cholelithiasis and chronic kidney disease.8[6], 9[7], 10[8], 11[9], 12[10]

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