2,3-dihydroxy-5-methylthio-4-pentenoate (dmtpa)* to n-acetylglucosaminylasparagine

Numerator Metabolite

Structure of 2,3-dihydroxy-5-methylthio-4-pentenoate (dmtpa)*
Metabolite Accession: GCST90200233
Name: 2,3-dihydroxy-5-methylthio-4-pentenoate (dmtpa)*
Hmdb Id: HMDB0240388
Super Pathway: NA
Sub Pathway: NA
Inchikey: XMZBEAXQGSBWLG

Denominator Metabolite

Structure of n-acetylglucosaminylasparagine
Metabolite Accession: GCST90200316
Name: n-acetylglucosaminylasparagine
Hmdb Id: HMDB0000489
Super Pathway: NA
Sub Pathway: NA
Inchikey: YTTRPBWEMMPYSW

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):
-0.143
Position:
211540507
SE (Ratio):
0.018
Effect Allele:
A
Z-score (Ratio):
-7.709
Reference Allele:
C
-log10(P):
-31.997
MAF:
0.310
Beta (Num):
-0.076
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.067
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:

Methionine salvage pathway.4[1], 5[2]

Denominator Metabolite Explanation:

N-linked glycoprotein degradation.6[1]

Ratio Explanation:

The ratio may reflect altered nitrogen metabolism from CPS1 dysfunction alongside changes in glycoprotein turnover, but a direct link is not established.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function likely impairs ureagenesis, leading to nitrogen accumulation and affecting kidney and liver function, which is reflected in phenotypes like cholelithiasis, renal failure, and abnormal blood parameters. The elevated dmtpa may also be linked to renal dysfunction and hypertension.7[1], 8[2], 9[3], 10[4]

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