hexanoylglutamine to acetylcarnitine (c2)

Numerator Metabolite

Structure of hexanoylglutamine
Metabolite Accession: GCST90199833
Name: hexanoylglutamine
Hmdb Id: HMDB0242182
Super Pathway: NA
Sub Pathway: NA
Inchikey: NONGMLDQXRDGIT

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: rs272874

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
-0.134
Position:
131675046
SE (Ratio):
0.014
Effect Allele:
C
Z-score (Ratio):
-9.575
Reference Allele:
T
-log10(P):
-48.340
MAF:
0.373
Beta (Num):
-0.022
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:
SLC22A4 SLC22A5 P4HA2 PDLIM4 C5orf56

Region: rs1177442

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
-0.301
Position:
25809069
SE (Ratio):
0.013
Effect Allele:
A
Z-score (Ratio):
-22.347
Reference Allele:
G
-log10(P):
-253.029
MAF:
0.441
Beta (Num):
-0.318
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.017
SE (Den):
0.015
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A3 SLC17A4 HIST1H2BA HIST1H2AA

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism.11[1], 12[2], 13[3]

Denominator Metabolite Explanation:

Fatty acid metabolism, carnitine shuttle.14[1], 15[2], 16[3], 17[4], 18[5]

Ratio Explanation:

Increased hexanoylglutamine, a detoxification product of accumulated hexanoyl-CoA, and altered acetylcarnitine suggest impaired fatty acid oxidation due to deficient ACADM activity.10[1], 11[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

ACADM variants impair fatty acid oxidation, increasing hexanoylglutamine.10[1], 11[2] This metabolic shift is linked to hyperuricemia and gout, as impaired beta-oxidation can lead to increased purine breakdown or reduced renal urate excretion, though the exact mechanism requires further study.19[3], 20[4], 21[5]

Phenotype Driver:

Gene-centric:ACADM

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