5-methylthioadenosine (mta) to creatinine

Numerator Metabolite

Structure of 5-methylthioadenosine (mta)
Metabolite Accession: GCST90200359
Name: 5-methylthioadenosine (mta)
Hmdb Id: HMDB0001173
Super Pathway: NA
Sub Pathway: NA
Inchikey: WUUGFSXJNOTRMR

Denominator Metabolite

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

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):
-0.151
Position:
211540507
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
-8.671
Reference Allele:
C
-log10(P):
-39.991
MAF:
0.310
Beta (Num):
-0.107
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.044
SE (Den):
0.014
No CNV overlap
rQTL cluster:
140
Reaction Distance:
5.0
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Polyamine synthesis, methionine salvage pathway.9[1], 10[2], 11[3]

Denominator Metabolite Explanation:

Creatine synthesis, phosphocreatine degradation.12[1], 13[2], 14[3]

Ratio Explanation:

CPS1 dysfunction impacts nitrogen disposal via the urea cycle, while creatinine reflects muscle mass and kidney function; their direct biochemical link is not established.

Ratio Evidence:

metabolites unrelated

Gene Ratio Phenotype Relationship:

Reduced CPS1 function, indicated by the missense variant, is linked to chronic kidney disease and cholelithiasis, potentially through impaired nitrogen metabolism and altered bile composition, respectively.15[1], 16[2], 17[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