creatinine to glutarylcarnitine (c5-dc)

Numerator Metabolite

Structure of creatinine
Metabolite Accession: GCST90200366
Name: creatinine
Hmdb Id: HMDB0000562
Super Pathway: NA
Sub Pathway: NA
Inchikey: DDRJAANPRJIHGJ

Denominator Metabolite

Structure of glutarylcarnitine (c5-dc)
Metabolite Accession: GCST90199799
Name: glutarylcarnitine (c5-dc)
Hmdb Id: HMDB0013130
Super Pathway: NA
Sub Pathway: NA
Inchikey: NXJAXUYOQLTISD

Associated Genomic Regions

Region: rs1047891

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
2
Beta (Ratio):
0.146
Position:
211540507
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
8.505
Reference Allele:
C
-log10(P):
-38.550
MAF:
0.309
Beta (Num):
0.044
Novel Locus:
Yes ✔️
SE (Num):
0.014
Beta (Den):
-0.102
SE (Den):
0.016
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Creatine synthesis, phosphocreatine metabolism.7[1], 8[2], 9[3]

Denominator Metabolite Explanation:

Lysine and tryptophan metabolism.10[1], 11[2]

Ratio Explanation:

A higher ratio may indicate impaired kidney function, as creatinine is excreted by the kidneys and glutarylcarnitine levels can rise with renal insufficiency.12[1], 13[2], 14[3], 15[4]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CPS1 variants are linked to renal dysfunction.16[1], 17[2] Impaired CPS1 function can affect the urea cycle, leading to kidney stress. Both creatinine and glutarylcarnitine are biomarkers for kidney function, and their altered ratio reflects a decline in renal clearance, manifesting as chronic kidney disease or failure.12[3], 13[4], 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