glutamine conjugate of c7h12o2* to palmitate (16:0)

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 palmitate (16:0)
Metabolite Accession: GCST90200397
Name: palmitate (16:0)
Hmdb Id: HMDB0000220
Super Pathway: NA
Sub Pathway: NA
Inchikey: IPCSVZSSVZVIGE

Associated Genomic Regions

Region: rs35630725;rs1890452

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):
0.152
Position:
76192508
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
9.072
Reference Allele:
G
-log10(P):
-43.596
MAF:
0.338
Beta (Num):
0.112
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.040
SE (Den):
0.016
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

LLM Analysis

Numerator Metabolite Explanation:

Xenobiotic detoxification

Denominator Metabolite Explanation:

Fatty acid beta-oxidation

Ratio Explanation:

Reduced ACADM activity may lead to the accumulation of unprocessed medium-chain fatty acids, which are then conjugated with glutamine for excretion, while palmitate levels remain unaffected.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

A defect in the ACADM gene can lead to medium-chain acyl-CoA dehydrogenase deficiency (MCADD). This results in the inability to properly break down medium-chain fatty acids, causing them to be conjugated with glutamine and excreted. This ratio is a biomarker for MCADD, a metabolic disorder phenotype.

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