n2,n5-diacetylornithine to 3-carboxy-4-methyl-5-propyl-2-furanpropanoate (cmpf)

Numerator Metabolite

Structure of n2,n5-diacetylornithine
Metabolite Accession: GCST90199954
Name: n2,n5-diacetylornithine
Hmdb Id: HMDB0240345
Super Pathway: NA
Sub Pathway: NA
Inchikey: XUYANFPPYJSBPU

Denominator Metabolite

Structure of 3-carboxy-4-methyl-5-propyl-2-furanpropanoate (cmpf)
Metabolite Accession: GCST90199712
Name: 3-carboxy-4-methyl-5-propyl-2-furanpropanoate (cmpf)
Hmdb Id: HMDB0061112
Super Pathway: NA
Sub Pathway: NA
Inchikey: WMCQWXZMVIETAO

Associated Genomic Regions

Region: rs2762353

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:
6
Beta (Ratio):
-0.180
Position:
25794431
SE (Ratio):
0.020
Effect Allele:
A
Z-score (Ratio):
-8.967
Reference Allele:
G
-log10(P):
-42.631
MAF:
0.444
Beta (Num):
-0.079
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.101
SE (Den):
0.015
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A4 SLC17A3 HIST1H2BA HIST1H2AA

LLM Analysis

Numerator Metabolite Explanation:

Amino acid acetylation, Urea cycle.5[1]

Denominator Metabolite Explanation:

Furanoid acid metabolism, uremic toxin metabolism.6[1], 7[2], 8[3]

Ratio Explanation:

The ratio of n2,n5-diacetylornithine to CMPF may reflect altered renal clearance by the SLC17A4 transporter, as both metabolites are associated with kidney function.9[1], 6[2], 7[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

The SLC17A4 missense variant likely alters renal transport, affecting clearance of metabolites like CMPF and n2,n5-diacetylornithine, which are linked to kidney dysfunction.9[1], 10[2], 7[3] This aligns with observed phenotypes like altered serum creatinine, uric acid, and hematological parameters often impacted by kidney disease.

Phenotype Driver:

Gene-centric:SLC17A4

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