3-hydroxyhexanoylcarnitine (1) to 5-dodecenoylcarnitine (c12:1)

Numerator Metabolite

Structure of 3-hydroxyhexanoylcarnitine (1)
Metabolite Accession: GCST90200228
Name: 3-hydroxyhexanoylcarnitine (1)
Hmdb Id: HMDB0013131
Super Pathway: NA
Sub Pathway: NA
Inchikey: VYEONLJQPYRKAN

Denominator Metabolite

Metabolite Accession: GCST90200151
Name: 5-dodecenoylcarnitine (c12:1)
Hmdb Id: HMDB13326
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs7541058

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):
0.211
Position:
76199817
SE (Ratio):
0.017
Effect Allele:
T
Z-score (Ratio):
12.392
Reference Allele:
C
-log10(P):
-79.532
MAF:
0.337
Beta (Num):
0.124
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.086
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 beta-oxidation

Denominator Metabolite Explanation:

Fatty acid beta-oxidation

Ratio Explanation:

Reduced ACADM enzyme function can lead to the accumulation of upstream metabolites like 3-hydroxyhexanoylcarnitine and a decrease in downstream metabolites like 5-dodecenoylcarnitine.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

No direct phenotype link is provided in the input data, however, mutations in ACADM are known to cause medium-chain acyl-CoA dehydrogenase deficiency, a disorder of fatty acid oxidation.1[1] This can lead to a build-up of medium-chain fatty acids, damaging the liver and brain.1[2]

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