(s)-3-hydroxybutyrylcarnitine to glutamine conjugate of c7h12o2*

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

Associated Genomic Regions

Region: rs274571

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:
5
Beta (Ratio):
0.115
Position:
131712125
SE (Ratio):
0.014
Effect Allele:
G
Z-score (Ratio):
8.481
Reference Allele:
A
-log10(P):
-38.342
MAF:
0.293
Beta (Num):
0.059
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.056
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A5 SLC22A4 C5orf56 P4HA2 PDLIM4

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation, Ketone body metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Amino acid conjugation, Detoxification pathway.6[1], 7[2]

Ratio Explanation:

The ratio likely reflects SLC22A5 activity, contrasting a carnitine-dependent metabolite, (s)-3-hydroxybutyrylcarnitine, with a glutamine conjugate, whose precursor could also be an SLC22A5 substrate.1[1], 8[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in SLC22A5 likely alters systemic carnitine availability and energy metabolism. This may modulate the function and development of immune and hematopoietic cells, leading to the observed associations with various blood cell counts.9[1], 10[2], 11[3]

Phenotype Driver:

Gene-centric:SLC22A5

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