glutamine conjugate of c6h10o2 (1)* to acetylcarnitine (c2)

Numerator Metabolite

Metabolite Accession: GCST90200176
Name: glutamine conjugate of c6h10o2 (1)*
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):
-0.166
Position:
131699867
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
-9.842
Reference Allele:
G
-log10(P):
-50.955
MAF:
0.373
Beta (Num):
-0.054
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

Denominator Metabolite Explanation:

Fatty acid metabolism, Carnitine shuttle6[1], 7[2], 8[3]

Ratio Explanation:

The ratio likely reflects decreased acetylcarnitine due to impaired carnitine transport by SLC22A5, while the numerator's origin is unclear but may involve xenobiotic metabolism.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced SLC22A5 function can impair carnitine-dependent fatty acid oxidation, affecting energy production in immune cells and leading to altered blood cell counts, and may also influence uric acid excretion through renal competition.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