3-methylglutarylcarnitine (2) to homoarginine

Numerator Metabolite

Structure of 3-methylglutarylcarnitine (2)
Metabolite Accession: GCST90199971
Name: 3-methylglutarylcarnitine (2)
Hmdb Id: HMDB0000552
Super Pathway: NA
Sub Pathway: NA
Inchikey: HFCPFJNSBPQJDP

Denominator Metabolite

Structure of homoarginine
Metabolite Accession: GCST90199675
Name: homoarginine
Hmdb Id: HMDB0000670
Super Pathway: NA
Sub Pathway: NA
Inchikey: QUOGESRFPZDMMT

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):
0.579
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
25.372
Reference Allele:
C
-log10(P):
-325.326
MAF:
0.309
Beta (Num):
0.312
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.267
SE (Den):
0.015
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Leucine catabolism, mitochondrial dysfunction.3[1], 4[2]

Denominator Metabolite Explanation:

Urea cycle, lysine degradation.5[1], 6[2]

Ratio Explanation:

A higher ratio may indicate a shift from ureagenesis towards alternative nitrogen and carbon metabolism, potentially influenced by CPS1 activity.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function can lead to hyperammonemia and altered amino acid metabolism, which are systemically linked to renal and hepatobiliary stress, manifesting as kidney disease and cholelithiasis.7[1], 8[2], 9[3], 10[4], 11[5]

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