3-hydroxyhexanoylcarnitine (1) to 3-hydroxylaurate

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 3-hydroxylaurate
Metabolite Accession: GCST90199700
Name: 3-hydroxylaurate
Hmdb Id: HMDB0000387
Super Pathway: NA
Sub Pathway: NA
Inchikey: MUCMKTPAZLSKTL

Associated Genomic Regions

Region: rs7541058

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.167
Position:
76199817
SE (Ratio):
0.017
Effect Allele:
T
Z-score (Ratio):
10.054
Reference Allele:
C
-log10(P):
-53.087
MAF:
0.337
Beta (Num):
0.124
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.043
SE (Den):
0.016
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

Region: rs2130525

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.148
Position:
151902101
SE (Ratio):
0.016
Effect Allele:
T
Z-score (Ratio):
9.164
Reference Allele:
C
-log10(P):
-44.444
MAF:
0.392
Beta (Num):
0.046
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.102
SE (Den):
0.015
No CNV overlap
rQTL cluster:
155
Reaction Distance:
NA
Closest Genes:
THEM4 S100A10 THEM5 C2CD4D RORC

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation

Denominator Metabolite Explanation:

Fatty acid metabolism, Lipid A biosynthesis

Ratio Explanation:

An elevated ratio of 3-hydroxyhexanoylcarnitine to 3-hydroxylaurate suggests altered medium-chain fatty acid oxidation, potentially due to reduced ACADM activity.1[1], 2[2], 6[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced ACADM activity can lead to the accumulation of upstream metabolites like 3-hydroxyhexanoylcarnitine.5[1] The link to diverticular disease is not well-established but may involve altered energy metabolism and inflammatory responses in the colon, as the exact cause of diverticular disease is unknown but involves diet and genetics.7[2], 8[3]

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