3-hydroxyhexanoylcarnitine (1) to adipoylcarnitine (c6-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 adipoylcarnitine (c6-dc)
Metabolite Accession: GCST90200018
Name: adipoylcarnitine (c6-dc)
Hmdb Id: HMDB0061677
Super Pathway: NA
Sub Pathway: NA
Inchikey: BSVHAXJKBCWVDA

Associated Genomic Regions

Region: rs12132488

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.257
Position:
47389613
SE (Ratio):
0.023
Effect Allele:
T
Z-score (Ratio):
11.302
Reference Allele:
C
-log10(P):
-66.525
MAF:
0.127
Beta (Num):
0.049
Novel Locus:
No
SE (Num):
0.023
Beta (Den):
-0.209
SE (Den):
0.022
No CNV overlap
rQTL cluster:
163
Reaction Distance:
NA
Closest Genes:
CYP4A11 CYP4X1 CYP4B1 CYP4Z1 EFCAB14

Region: rs1134688

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
-0.280
Position:
53681699
SE (Ratio):
0.018
Effect Allele:
G
Z-score (Ratio):
-15.721
Reference Allele:
T
-log10(P):
-126.566
MAF:
0.228
Beta (Num):
-0.035
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
0.245
SE (Den):
0.018
No CNV overlap
rQTL cluster:
162
Reaction Distance:
NA
Closest Genes:
C1orf123 CPT2 MAGOH LRP8 SLC1A7

Region: rs77773255

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.172
Position:
76217193
SE (Ratio):
0.016
Effect Allele:
A
Z-score (Ratio):
10.701
Reference Allele:
G
-log10(P):
-59.862
MAF:
0.307
Beta (Num):
0.122
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.050
SE (Den):
0.016
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):
-0.240
Position:
160564476
SE (Ratio):
0.020
Effect Allele:
G
Z-score (Ratio):
-12.167
Reference Allele:
C
-log10(P):
-76.748
MAF:
0.175
Beta (Num):
-0.079
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.161
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]

Denominator Metabolite Explanation:

Fatty acid omega-oxidation, Peroxisomal metabolism.8[1], 9[2], 10[3]

Ratio Explanation:

Reduced CPT2 function can disrupt beta-oxidation, potentially causing 3-hydroxyhexanoylcarnitine accumulation and shunting of fatty acids toward omega-oxidation, altering the adipoylcarnitine level.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced CPT2 enzyme function impairs mitochondrial fatty acid oxidation, a primary energy source for the heart.1[1], 11[2] This can lead to lipid accumulation and energy deficiency, contributing to dyslipidemia and increasing the risk of ischaemic heart disease.12[3], 13[4], 14[5], 11[6]

Phenotype Driver:

Gene-centric:CPT2

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