branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid* to myristoleoylcarnitine (c14:1)*

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 myristoleoylcarnitine (c14:1)*
Metabolite Accession: GCST90199979
Name: myristoleoylcarnitine (c14:1)*
Hmdb Id: HMDB0240588
Super Pathway: NA
Sub Pathway: NA
Inchikey: ABVVZYXTZLEOHP

Associated Genomic Regions

Region: rs151154986

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Clumped rQTL variant

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SNP Summary

Chr:
14
Beta (Ratio):
-0.502
Position:
74040136
SE (Ratio):
0.033
Effect Allele:
A
Z-score (Ratio):
-15.267
Reference Allele:
G
-log10(P):
-119.492
MAF:
0.029
Beta (Num):
-0.480
Novel Locus:
No
SE (Num):
0.044
Beta (Den):
0.022
SE (Den):
0.044
No CNV overlap
rQTL cluster:
44
Reaction Distance:
NA
Closest Genes:
ACOT2 HEATR4 ACOT4 ACOT1 ACOT6

Region: rs441969

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
-0.097
Position:
131702120
SE (Ratio):
0.012
Effect Allele:
G
Z-score (Ratio):
-8.386
Reference Allele:
A
-log10(P):
-37.530
MAF:
0.376
Beta (Num):
-0.029
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.068
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A5 SLC22A4 C5orf56 P4HA2 PDLIM4

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism.7[1], 8[2], 9[3]

Denominator Metabolite Explanation:

Fatty acid metabolism, Carnitine shuttle.10[1], 11[2], 12[3]

Ratio Explanation:

The ratio reflects ACOT2 activity; higher activity may increase free fatty acids (numerator) and decrease acyl-CoAs available for carnitine conjugation (denominator).4[1], 6[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered ACOT2 function affects fatty acid metabolism, which is linked to hematopoietic cell differentiation and inflammation, plausibly impacting the observed blood cell count phenotypes.13[1], 14[2], 15[3]

Phenotype Driver:

Gene-centric:ACOT2

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