(s)-3-hydroxybutyrylcarnitine to 3-hydroxybutyroylglycine**

Numerator Metabolite

Structure of (s)-3-hydroxybutyrylcarnitine
Metabolite Accession: GCST90200088
Name: (s)-3-hydroxybutyrylcarnitine
Hmdb Id: HMDB0013127
Super Pathway: NA
Sub Pathway: NA
Inchikey: UEFRDQSMQXDWTO

Denominator Metabolite

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

Associated Genomic Regions

Region: rs640777

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
-0.144
Position:
67354986
SE (Ratio):
0.013
Effect Allele:
T
Z-score (Ratio):
-10.924
Reference Allele:
C
-log10(P):
-62.287
MAF:
0.426
Beta (Num):
-0.042
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.101
SE (Den):
0.015
No CNV overlap
rQTL cluster:
58
Reaction Distance:
NA
Closest Genes:
GSTP1 C11orf72 NDUFV1 NUDT8 TBX10

Region: rs1047891

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Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
-0.353
Position:
211540507
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
-25.165
Reference Allele:
C
-log10(P):
-320.081
MAF:
0.309
Beta (Num):
-0.030
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:

Fatty acid beta-oxidation, ketone body metabolism.6[1], 7[2], 8[3], 9[4], 10[5]

Denominator Metabolite Explanation:

Glycine conjugation, detoxification of acyl-CoAs.11[1], 12[2], 13[3], 14[4], 15[5]

Ratio Explanation:

An elevated ratio suggests increased fatty acid oxidation and ketogenesis relative to the capacity for glycine-mediated detoxification of resulting acyl-CoA intermediates.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CPS1 variants may disrupt urea cycle function, leading to metabolic stress. This, combined with altered fatty acid metabolism indicated by the ratio, could contribute to cellular dysfunction underlying the risk for cholelithiasis and chronic kidney disease, where metabolic and detoxification pathways are crucial.1[1], 16[2], 3[3], 5[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