creatine to 2r,3r-dihydroxybutyrate

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 2r,3r-dihydroxybutyrate
Metabolite Accession: GCST90199889
Name: 2r,3r-dihydroxybutyrate
Hmdb Id: HMDB0000498
Super Pathway: NA
Sub Pathway: NA
Inchikey: LOUGYXZSURQALL

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):
0.356
Position:
211540507
SE (Ratio):
0.021
Effect Allele:
A
Z-score (Ratio):
16.767
Reference Allele:
C
-log10(P):
-143.613
MAF:
0.310
Beta (Num):
0.204
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.152
SE (Den):
0.017
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Arginine and glycine metabolism

Denominator Metabolite Explanation:

Fatty acid dihydroxy metabolism

Ratio Explanation:

Reduced CPS1 function may alter urea cycle activity, impacting arginine availability for creatine synthesis, while 2R,3R-dihydroxybutyrate levels may reflect altered fatty acid metabolism.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 activity is associated with hyperammonemia and has been linked to chronic kidney disease and cholelithiasis.1[1], 2[2], 3[3], 4[4], 5[5], 6[6] Altered creatine levels and fatty acid metabolism may be secondary effects contributing to the renal and biliary phenotypes.

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