3-hydroxylaurate to (s)-3-hydroxybutyrylcarnitine

Numerator Metabolite

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

Denominator Metabolite

Structure of (s)-3-hydroxybutyrylcarnitine
Metabolite Accession: GCST90200088
Name: (s)-3-hydroxybutyrylcarnitine
Hmdb Id: HMDB0013127
Super Pathway: NA
Sub Pathway: NA
Inchikey: UEFRDQSMQXDWTO

Associated Genomic Regions

Region: rs7541058

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
-0.196
Position:
76199817
SE (Ratio):
0.017
Effect Allele:
T
Z-score (Ratio):
-11.559
Reference Allele:
C
-log10(P):
-69.487
MAF:
0.338
Beta (Num):
-0.043
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.152
SE (Den):
0.015
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

Region: rs61817697

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):
-0.167
Position:
151890958
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
-9.326
Reference Allele:
A
-log10(P):
-45.953
MAF:
0.288
Beta (Num):
-0.109
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.058
SE (Den):
0.016
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.3[1], 4[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, ketone body metabolism.5[1], 6[2]

Ratio Explanation:

A decreased ratio of 3-hydroxylaurate to (s)-3-hydroxybutyrylcarnitine may indicate reduced ACADM activity, leading to lower production of the former and relative accumulation of the latter.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced ACADM activity, indicated by the metabolic ratio, may lead to altered fatty acid metabolism.7[1], 8[2] While a direct link to diverticular disease isn't established, metabolic disturbances are increasingly associated with this condition.9[3], 10[4]

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