3-hydroxyhexanoylcarnitine (1) to octadecanedioate (c18-dc)

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

Structure of octadecanedioate (c18-dc)
Metabolite Accession: GCST90199805
Name: octadecanedioate (c18-dc)
Hmdb Id: HMDB0000782
Super Pathway: NA
Sub Pathway: NA
Inchikey: BNJOQKFENDDGSC

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):
0.178
Position:
76199817
SE (Ratio):
0.018
Effect Allele:
T
Z-score (Ratio):
9.767
Reference Allele:
C
-log10(P):
-50.208
MAF:
0.337
Beta (Num):
0.124
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.054
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 omega-oxidation

Ratio Explanation:

This ratio likely reflects the balance between incomplete medium-chain beta-oxidation (numerator) and compensatory omega-oxidation (denominator), influenced by ACADM enzyme activity.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

No phenotype associations were provided. However, genetic variation in ACADM leading to altered fatty acid oxidation is causally linked to Medium-Chain Acyl-CoA Dehydrogenase Deficiency.4[1], 5[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