branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid* to acetylcarnitine (c2)

Numerator Metabolite

Metabolite Accession: GCST90200249
Name: branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of acetylcarnitine (c2)
Metabolite Accession: GCST90199669
Name: acetylcarnitine (c2)
Hmdb Id: HMDB0000201
Super Pathway: NA
Sub Pathway: NA
Inchikey: RDHQFKQIGNGIED

Associated Genomic Regions

Region: rs111344855

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Clumped rQTL variant

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SNP Summary

Chr:
14
Beta (Ratio):
-0.460
Position:
74079729
SE (Ratio):
0.037
Effect Allele:
T
Z-score (Ratio):
-12.464
Reference Allele:
C
-log10(P):
-80.436
MAF:
0.034
Beta (Num):
-0.424
Novel Locus:
No
SE (Num):
0.041
Beta (Den):
0.036
SE (Den):
0.041
No CNV overlap
rQTL cluster:
44
Reaction Distance:
NA
Closest Genes:
ACOT6 ACOT4 DNAL1 ACOT2 HEATR4

Region: rs272849

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
-0.141
Position:
131690241
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
-10.159
Reference Allele:
G
-log10(P):
-54.161
MAF:
0.373
Beta (Num):
-0.029
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.112
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 SLC22A5 C5orf56 P4HA2 PDLIM4

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation

Denominator Metabolite Explanation:

Carnitine shuttle, Fatty acid metabolism

Ratio Explanation:

The ratio reflects cellular carnitine uptake by SLC22A5; lower acetylcarnitine suggests impaired transport, affecting fatty acid metabolism and leading to reduced energy.1[1], 4[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired SLC22A5 function reduces carnitine uptake, decreasing acetylcarnitine and altering the ratio. This disrupts fatty acid oxidation, potentially impacting the development and function of hematopoietic cells, as suggested by associations with various blood cell counts.1[1], 2[2], 3[3]

Phenotype Driver:

Gene-centric:SLC22A5

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