glutamine conjugate of c6h10o2 (2)* to Hexanoylcarnitine

Numerator Metabolite

Metabolite Accession: GCST90200173
Name: glutamine conjugate of c6h10o2 (2)*
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: rs12091720

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

Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.555
Position:
76186949
SE (Ratio):
0.018
Effect Allele:
A
Z-score (Ratio):
31.374
Reference Allele:
G
-log10(P):
-495.851
MAF:
0.308
Beta (Num):
0.125
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:

Xenobiotic Metabolism, Fatty Acid Metabolism

Denominator Metabolite Explanation:

Fatty Acid Metabolism, Lipid Transport4[1], 5[2]

Ratio Explanation:

The ratio reflects the shunting of hexanoyl-CoA, which accumulates due to deficient ACADM activity, into alternative detoxification (numerator) and carnitine conjugation (denominator) pathways.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced ACADM activity impairs fatty acid oxidation, a key energy source.1[1] This impairment can affect the development and function of hematopoietic cells, potentially leading to the observed alterations in monocyte, eosinophil, neutrophil, and total white blood cell counts.

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