glutamine conjugate of c7h12o2* to 3-hydroxybutyroylglycine**

Numerator Metabolite

Metabolite Accession: GCST90200167
Name: glutamine conjugate of c7h12o2*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200174
Name: 3-hydroxybutyroylglycine**
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):
0.014
Effect Allele:
T
Z-score (Ratio):
-9.387
Reference Allele:
C
-log10(P):
-46.532
MAF:
0.435
Beta (Num):
-0.035
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.094
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):
-0.367
Position:
211540507
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
-25.217
Reference Allele:
C
-log10(P):
-321.401
MAF:
0.309
Beta (Num):
-0.043
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.324
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:

Xenobiotic metabolism, Glutamine conjugation5[1]

Denominator Metabolite Explanation:

Fatty acid metabolism, Ketone body metabolism6[1], 7[2], 8[3]

Ratio Explanation:

The ratio may reflect dysfunction in mitochondrial ammonia detoxification (CPS1) and fatty acid metabolism, as both metabolites are acyl-conjugates processed within the mitochondria.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired CPS1 function, indicated by the altered ratio, disrupts nitrogen disposal, a central process in the liver and kidneys, linking to phenotypes like cholelithiasis and renal disease seen with CPS1 dysfunction.9[1], 10[2], 11[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