creatine to homoarginine

Numerator Metabolite

Structure of creatine
Metabolite Accession: GCST90200323
Name: creatine
Hmdb Id: HMDB0000064
Super Pathway: NA
Sub Pathway: NA
Inchikey: CVSVTCORWBXHQV

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):
0.471
Position:
211540507
SE (Ratio):
0.020
Effect Allele:
A
Z-score (Ratio):
23.611
Reference Allele:
C
-log10(P):
-282.122
MAF:
0.310
Beta (Num):
0.204
Novel Locus:
No
SE (Num):
0.015
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:

Numerator Pathway(s) (max 10 words): Arginine and glycine metabolism.4[1], 5[2], 6[3], 7[4], 8[5]

Denominator Metabolite Explanation:

Denominator Pathway(s) (max 10 words): Arginine and lysine metabolism.9[1], 10[2]

Ratio Explanation:

Ratio Interpretation (max 25 words): A lower CPS1 activity can reduce arginine availability, a common precursor for both creatine and homoarginine synthesis, thus potentially altering their ratio.11[1], 12[2]

Ratio Evidence:

Ratio Evidence Level: metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Ratio-Phenotype Link (max 50 words): Reduced CPS1 function can lead to impaired nitrogen metabolism and lower arginine levels, affecting creatine and homoarginine synthesis. This disruption, particularly the decrease in homoarginine, is associated with an increased risk of chronic kidney disease and cholelithiasis due to systemic metabolic disturbances.13[1], 14[2], 15[3]

Phenotype Driver:

Primary Driver Of Phenotype Link: 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