(s)-3-hydroxybutyrylcarnitine to 2-butenoylglycine

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

Structure of 2-butenoylglycine
Metabolite Accession: GCST90200152
Name: 2-butenoylglycine
Hmdb Id: HMDB0341232
Super Pathway: NA
Sub Pathway: NA
Inchikey: WWJXRJJBIVSSNF

Associated Genomic Regions

Region: rs640777

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
-0.181
Position:
67354986
SE (Ratio):
0.018
Effect Allele:
T
Z-score (Ratio):
-10.277
Reference Allele:
C
-log10(P):
-55.376
MAF:
0.426
Beta (Num):
-0.042
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.138
SE (Den):
0.017
No CNV overlap
rQTL cluster:
58
Reaction Distance:
NA
Closest Genes:
GSTP1 C11orf72 NDUFV1 NUDT8 TBX10

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):
-0.292
Position:
211540507
SE (Ratio):
0.019
Effect Allele:
A
Z-score (Ratio):
-15.536
Reference Allele:
C
-log10(P):
-123.661
MAF:
0.309
Beta (Num):
-0.030
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.262
SE (Den):
0.018
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism, Ketone body metabolism

Denominator Metabolite Explanation:

Fatty acid metabolism (Acyl Glycine)

Ratio Explanation:

An elevated ratio of (S)-3-hydroxybutyrylcarnitine to 2-butenoylglycine may suggest a disruption in fatty acid beta-oxidation, potentially influenced by ACADL activity.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced ACADL function can impair fatty acid oxidation, leading to lipid accumulation and metabolic stress, potentially contributing to cholelithiasis and chronic kidney disease.7[1], 8[2], 9[3]

Phenotype Driver:

Gene-centric:ACADL

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