3-hydroxydecanoylcarnitine to 3-hydroxylaurate

Numerator Metabolite

Structure of 3-hydroxydecanoylcarnitine
Metabolite Accession: GCST90200246
Name: 3-hydroxydecanoylcarnitine
Hmdb Id: HMDB0061636
Super Pathway: NA
Sub Pathway: NA
Inchikey: VCRSQDIROUELAR

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: rs28415528

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.133
Position:
151879761
SE (Ratio):
0.013
Effect Allele:
A
Z-score (Ratio):
10.619
Reference Allele:
G
-log10(P):
-58.983
MAF:
0.318
Beta (Num):
0.027
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.105
SE (Den):
0.016
No CNV overlap
rQTL cluster:
155
Reaction Distance:
NA
Closest Genes:
THEM4 THEM5 C2CD4D RORC S100A10

Region: rs2062541

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Clumped rQTL variant

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SNP Summary

Chr:
16
Beta (Ratio):
-0.104
Position:
16127235
SE (Ratio):
0.012
Effect Allele:
G
Z-score (Ratio):
-8.544
Reference Allele:
A
-log10(P):
-38.887
MAF:
0.389
Beta (Num):
-0.086
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.018
SE (Den):
0.016
No CNV overlap
rQTL cluster:
33
Reaction Distance:
NA
Closest Genes:
ABCC1 ABCC6 FOPNL MYH11 NOMO3

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Fatty acid metabolism/beta-oxidation.7[1], 8[2]

Ratio Explanation:

An increased ratio of 3-hydroxydecanoylcarnitine to 3-hydroxylaurate may indicate altered mitochondrial fatty acid beta-oxidation, potentially influenced by THEM4 and ABCC1 gene functions.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

The THEM4 gene's role in fatty acid metabolism may influence the availability of substrates for red blood cell production, and ABCC1's transport function could affect the cellular environment of developing red blood cells.1[1], 3[2], 9[3] This may lead to changes in mean corpuscular hemoglobin (MCH) and mean corpuscular hemoglobin concentration (MCHC).10[4]

Phenotype Driver:

Gene-centric:THEM4

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