3-hydroxyhexanoylcarnitine (1) to glutamine conjugate of c7h12o2*

Numerator Metabolite

Structure of 3-hydroxyhexanoylcarnitine (1)
Metabolite Accession: GCST90200228
Name: 3-hydroxyhexanoylcarnitine (1)
Hmdb Id: HMDB0013131
Super Pathway: NA
Sub Pathway: NA
Inchikey: VYEONLJQPYRKAN

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: rs635620

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
5
Beta (Ratio):
0.100
Position:
131720263
SE (Ratio):
0.013
Effect Allele:
G
Z-score (Ratio):
7.565
Reference Allele:
A
-log10(P):
-30.884
MAF:
0.293
Beta (Num):
0.044
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 C5orf56 SLC22A4 P4HA2 IRF1

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation, carnitine shuttle.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Xenobiotic metabolism, amino acid conjugation.8[1]

Ratio Explanation:

The ratio reflects carnitine-dependent fatty acid transport versus detoxification. Altered SLC22A5 function primarily impacts the numerator, 3-hydroxyhexanoylcarnitine, by affecting carnitine availability.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered SLC22A5 function affects carnitine transport, which is crucial for energy-intensive processes like hematopoiesis and growth. This metabolic disruption likely underlies the observed associations with neutrophil counts, other hematological traits, and height.9[1], 10[2], 11[3], 12[4]

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