glutamine conjugate of c7h12o2* to Hexanoylcarnitine

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 hexanoylcarnitine (c6)
Metabolite Accession: GCST90199668
Name: hexanoylcarnitine (c6)
Hmdb Id: HMDB0000756
Super Pathway: NA
Sub Pathway: NA
Inchikey: VVPRQWTYSNDTEA

Associated Genomic Regions

Region: rs11161468

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.538
Position:
76192582
SE (Ratio):
0.018
Effect Allele:
T
Z-score (Ratio):
30.118
Reference Allele:
C
-log10(P):
-457.179
MAF:
0.309
Beta (Num):
0.108
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.430
SE (Den):
0.015
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism, Glutamine conjugation.3[1], 4[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, Carnitine shuttle.5[1], 6[2]

Ratio Explanation:

This ratio reflects a shift in medium-chain fatty acid metabolism, where impaired beta-oxidation by ACADM shunts intermediates towards alternative detoxification pathways like glutamine conjugation.1[1]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

ACADM genetic variants alter medium-chain fatty acid oxidation, reflected by the ratio. This systemic metabolic disruption likely impacts the energy homeostasis and function of hematopoietic cells and the liver, leading to observed changes in blood cell counts and bilirubin levels.1[1], 7[2]

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