3-hydroxydecanoylcarnitine to 3-hydroxydecanoate

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-hydroxydecanoate
Metabolite Accession: GCST90199693
Name: 3-hydroxydecanoate
Hmdb Id: HMDB0002203
Super Pathway: NA
Sub Pathway: NA
Inchikey: FYSSBMZUBSBFJL

Associated Genomic Regions

Region: rs28415528

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.237
Position:
151879761
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
17.399
Reference Allele:
G
-log10(P):
-154.455
MAF:
0.318
Beta (Num):
0.027
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.210
SE (Den):
0.016
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Closest Genes:

Region: rs35594

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Clumped rQTL variant

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SNP Summary

Chr:
16
Beta (Ratio):
-0.115
Position:
16148926
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
-8.061
Reference Allele:
G
-log10(P):
-34.817
MAF:
0.283
Beta (Num):
-0.088
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
0.027
SE (Den):
0.017
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Closest Genes:

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation, Acylcarnitine metabolism.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

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

Ratio Explanation:

The ratio likely reflects the relative cellular efflux of 3-hydroxydecanoylcarnitine to 3-hydroxydecanoate, potentially influenced by the ABCC1 transporter, suggesting altered fatty acid transport.1[1], 9[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Gene-centric:ABCC1

Phenotype Driver:

Altered ABCC1 transporter activity, supported by eQTL colocalization, is associated with MCHC.10[1], 11[2] ABCC1 is expressed in erythrocytes and influences red blood cell homeostasis; the metabolite ratio may be a biomarker of this altered ABCC1 function affecting erythrocyte properties.12[3], 13[4], 14[5]

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