glutamine conjugate of c6h10o2 (1)* to laurylcarnitine

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 laurylcarnitine (c12)
Metabolite Accession: GCST90199750
Name: laurylcarnitine (c12)
Hmdb Id: HMDB000225
Super Pathway: NA
Sub Pathway: NA
Inchikey: FUJLYHJROOYKRA

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):
0.189
Position:
76192508
SE (Ratio):
0.018
Effect Allele:
A
Z-score (Ratio):
10.536
Reference Allele:
G
-log10(P):
-58.089
MAF:
0.339
Beta (Num):
0.140
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.049
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:

Fatty acid alternative detoxification (glutamine conjugation).4[1]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation; carnitine shuttle.2[1], 5[2]

Ratio Explanation:

Elevated ratio may reflect inefficient beta-oxidation due to ACADM dysfunction, causing accumulation of laurylcarnitine and shunting of acyl groups to glutamine conjugation.6[1]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

No phenotype data is available. Reduced ACADM function is linked to MCAD deficiency, a disorder of fatty acid oxidation presenting with hypoketotic hypoglycemia.1[1], 6[2]

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