myristoleoylcarnitine (c14:1)* to Hexanoylcarnitine

Numerator Metabolite

Structure of myristoleoylcarnitine (c14:1)*
Metabolite Accession: GCST90199979
Name: myristoleoylcarnitine (c14:1)*
Hmdb Id: HMDB0240588
Super Pathway: NA
Sub Pathway: NA
Inchikey: ABVVZYXTZLEOHP

Denominator Metabolite

Structure of hexanoylcarnitine (c6)
Metabolite Accession: GCST90199668
Name: hexanoylcarnitine (c6)
Hmdb Id: HMDB0000756
Super Pathway: NA
Sub Pathway: NA
Inchikey: VVPRQWTYSNDTEA

Associated Genomic Regions

Region: rs12091720

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.421
Position:
76186949
SE (Ratio):
0.012
Effect Allele:
A
Z-score (Ratio):
34.637
Reference Allele:
G
-log10(P):
-603.648
MAF:
0.308
Beta (Num):
-0.009
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.430
SE (Den):
0.015
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

Region: rs662138

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
0.141
Position:
160564476
SE (Ratio):
0.015
Effect Allele:
G
Z-score (Ratio):
9.265
Reference Allele:
C
-log10(P):
-45.384
MAF:
0.175
Beta (Num):
0.007
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.134
SE (Den):
0.020
No CNV overlap
rQTL cluster:
97
Reaction Distance:
NA
Closest Genes:
SLC22A1 SLC22A2 IGF2R SLC22A3 MAS1

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation.5[1], 6[2], 7[3], 8[4]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.9[1], 10[2], 11[3], 12[4]

Ratio Explanation:

A lower ACADM enzyme function can impede the breakdown of medium-chain fatty acids like hexanoylcarnitine, while having less effect on myristoleoylcarnitine, a long-chain fatty acid.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced ACADM activity, indicated by the pQTL and colocalization evidence, impairs fatty acid oxidation. This disruption of lipid metabolism is a plausible mechanism for the observed association with disorders of lipoprotein metabolism, hypercholesterolemia, and altered LDL-cholesterol levels.13[1]

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