3-hydroxyhexanoylcarnitine (1) to 5-dodecenoate (12:1n7)

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 5-dodecenoate (12:1n7)
Metabolite Accession: GCST90199723
Name: 5-dodecenoate (12:1n7)
Hmdb Id: HMDB0000529
Super Pathway: NA
Sub Pathway: NA
Inchikey: IJBFSOLHRKELLR

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):
0.188
Position:
76199817
SE (Ratio):
0.018
Effect Allele:
T
Z-score (Ratio):
10.454
Reference Allele:
C
-log10(P):
-57.229
MAF:
0.337
Beta (Num):
0.124
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.063
SE (Den):
0.015
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.1[1], 4[2]

Denominator Metabolite Explanation:

Fatty acid metabolism.5[1]

Ratio Explanation:

The ratio likely reflects ACADM activity; impaired function can lead to accumulation of 3-hydroxyhexanoylcarnitine relative to medium-chain fatty acid substrates like 5-dodecenoate.6[1], 7[2], 5[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

No phenotype was provided. However, reduced ACADM function, which this ratio may represent, is the cause of Medium-Chain Acyl-CoA Dehydrogenase deficiency, a serious metabolic disorder.7[1], 8[2], 9[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