glutamine conjugate of c7h12o2* to acetylcarnitine (c2)

Numerator Metabolite

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

Denominator Metabolite

Structure of acetylcarnitine (c2)
Metabolite Accession: GCST90199669
Name: acetylcarnitine (c2)
Hmdb Id: HMDB0000201
Super Pathway: NA
Sub Pathway: NA
Inchikey: RDHQFKQIGNGIED

Associated Genomic Regions

Region: rs274546

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
-0.163
Position:
131699867
SE (Ratio):
0.016
Effect Allele:
A
Z-score (Ratio):
-10.457
Reference Allele:
G
-log10(P):
-57.255
MAF:
0.373
Beta (Num):
-0.051
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.112
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A5 SLC22A4 C5orf56 P4HA2 PDLIM4

LLM Analysis

Numerator Metabolite Explanation:

Xenobiotic metabolism, glutamine metabolism.5[1], 6[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, carnitine shuttle.7[1], 8[2], 9[3]

Ratio Explanation:

The ratio may reflect carnitine availability for fatty acid metabolism, modulated by the SLC22A5 transporter, versus the rate of glutamine conjugation detoxification.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in SLC22A5 alters carnitine transport, affecting acetylcarnitine levels and systemic energy metabolism.1[1], 4[2] This may influence hematopoietic cell differentiation and function, leading to observed changes in blood cell counts and related biomarkers like uric acid.10[3], 11[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