creatine to betaine

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 betaine
Metabolite Accession: GCST90200425
Name: betaine
Hmdb Id: HMDB0000043
Super Pathway: NA
Sub Pathway: NA
Inchikey: KWIUHFFTVRNATP

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):
0.360
Position:
211540507
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
15.186
Reference Allele:
C
-log10(P):
-118.257
MAF:
0.310
Beta (Num):
0.204
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.156
SE (Den):
0.016
No CNV overlap
rQTL cluster:
140
Reaction Distance:
3.0
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Arginine and Glycine Metabolism; Creatine Biosynthesis4[1], 5[2]

Denominator Metabolite Explanation:

Choline Metabolism; Methionine Cycle6[1], 7[2]

Ratio Explanation:

CPS1 dysfunction alters arginine availability, a precursor for creatine.8[1], 9[2] Betaine, a methyl donor for methionine regeneration, is also linked to creatine synthesis.10[3], 11[4]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Defective CPS1 impairs the urea cycle, leading to hyperammonemia and affecting renal function (BUN, sCr).12[1], 13[2] This systemic metabolic disruption is linked to cholelithiasis and chronic kidney disease, with the ratio reflecting impaired nitrogen metabolism and methyl group donation.14[3]

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