(s)-3-hydroxybutyrylcarnitine to glutamine conjugate of c6h10o2 (2)*

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: GCST90200173
Name: glutamine conjugate of c6h10o2 (2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs682821

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):
0.110
Position:
131655540
SE (Ratio):
0.011
Effect Allele:
T
Z-score (Ratio):
9.824
Reference Allele:
C
-log10(P):
-50.779
MAF:
0.294
Beta (Num):
0.058
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.051
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 P4HA2 PDLIM4 SLC22A5 C5orf56

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid oxidation, ketone body metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Xenobiotic metabolism, glutamine conjugation.7[1], 8[2], 9[3]

Ratio Explanation:

The ratio may reflect the efficiency of the SLC22A5 transporter, balancing cellular uptake and clearance of (s)-3-hydroxybutyrylcarnitine against a glutamine-conjugated metabolite.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered SLC22A5 function impacts carnitine homeostasis, which is essential for fatty acid oxidation-dependent energy production in immune cells like neutrophils and platelets.10[1], 11[2], 12[3], 13[4] This can lead to the observed variations in their counts.

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