glutamine conjugate of c6h10o2 (1)* to caprylate (8:0)

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 caprylate (8:0)
Metabolite Accession: GCST90200445
Name: caprylate (8:0)
Hmdb Id: HMDB0000482
Super Pathway: NA
Sub Pathway: NA
Inchikey: WWZKQHOCKIZLMA

Associated Genomic Regions

Region: rs4949674

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):
0.259
Position:
76213715
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
11.554
Reference Allele:
C
-log10(P):
-69.424
MAF:
0.310
Beta (Num):
0.135
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.124
SE (Den):
0.017
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.4[1], 5[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.2[1]

Ratio Explanation:

Increased ratio suggests impaired ACADM function, diverting caprylate from beta-oxidation towards the formation and conjugation of alternative metabolites.6[1]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

No phenotype association was provided. The genetic evidence points to reduced ACADM function, which is causally linked to Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), an inherited metabolic disorder.3[1], 6[2], 7[3]

Phenotype Driver:

none

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