3-hydroxybutyroylglycine** to glutamine conjugate of c6h10o2 (1)*

Numerator Metabolite

Metabolite Accession: GCST90200174
Name: 3-hydroxybutyroylglycine**
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200176
Name: glutamine conjugate of c6h10o2 (1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs10896190

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.129
Position:
67406123
SE (Ratio):
0.013
Effect Allele:
T
Z-score (Ratio):
9.708
Reference Allele:
C
-log10(P):
-49.632
MAF:
0.435
Beta (Num):
0.094
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.035
SE (Den):
0.015
No CNV overlap
rQTL cluster:
58
Reaction Distance:
NA
Closest Genes:
TBX10 ACY3 NUDT8 ALDH3B2 NDUFV1

Region: rs1047891

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Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
0.383
Position:
211540507
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
27.305
Reference Allele:
C
-log10(P):
-376.322
MAF:
0.310
Beta (Num):
0.324
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.060
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:

Fatty acid metabolism (acylglycine)4[1]

Denominator Metabolite Explanation:

Fatty acid metabolism, xenobiotic detoxification

Ratio Explanation:

This ratio may reflect mitochondrial dysfunction, where impaired urea cycle function due to CPS1 variants affects both nitrogen and fatty acid metabolism.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired CPS1 function disrupts the urea cycle, leading to hyperammonemia, which is associated with hepatic (Cholelithiasis) and renal (Chronic kidney disease) pathologies.5[1], 6[2], 7[3], 8[4] The altered metabolite ratio is likely a secondary manifestation of this primary genetic defect.

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