glutamine conjugate of c6h10o2 (2)* to dodecadienoate (12:2)*

Numerator Metabolite

Metabolite Accession: GCST90200173
Name: glutamine conjugate of c6h10o2 (2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200190
Name: dodecadienoate (12:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs35630725;rs1890452

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.173
Position:
76192508
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
10.328
Reference Allele:
G
-log10(P):
-55.903
MAF:
0.337
Beta (Num):
0.129
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.043
SE (Den):
0.016
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

Region: rs7523082

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):
0.170
Position:
151848126
SE (Ratio):
0.016
Effect Allele:
A
Z-score (Ratio):
10.491
Reference Allele:
T
-log10(P):
-57.615
MAF:
0.396
Beta (Num):
0.052
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.119
SE (Den):
0.015
No CNV overlap
rQTL cluster:
155
Reaction Distance:
NA
Closest Genes:
THEM4 THEM5 C2CD4D RORC LINGO4

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid detoxification, glutamine conjugation.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Fatty acid omega-oxidation, beta-oxidation.8[1], 9[2], 10[3], 11[4]

Ratio Explanation:

This ratio reflects the balance between two alternative disposal pathways (glutamine conjugation and omega-oxidation) for medium-chain acyl-CoAs when beta-oxidation is impaired by ACADM dysfunction.12[1]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Deficient ACADM function leads to the accumulation of its substrates, which are then shunted to alternative metabolic pathways, altering the ratio of their products. No associated phenotype was provided, but ACADM deficiency can cause metabolic crises with hypoketotic hypoglycemia.13[1], 14[2], 15[3], 16[4], 17[5]

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