acetylcarnitine (c2) to myristate (14:0)

Numerator Metabolite

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

Denominator Metabolite

Structure of myristate (14:0)
Metabolite Accession: GCST90200414
Name: myristate (14:0)
Hmdb Id: HMDB0000806
Super Pathway: NA
Sub Pathway: NA
Inchikey: TUNFSRHWOTWDNC

Associated Genomic Regions

Region: rs419291

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:
5
Beta (Ratio):
0.146
Position:
131633355
SE (Ratio):
0.016
Effect Allele:
T
Z-score (Ratio):
9.392
Reference Allele:
C
-log10(P):
-46.579
MAF:
0.372
Beta (Num):
0.112
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.034
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
8.0
Closest Genes:
SLC22A4 P4HA2 PDLIM4 SLC22A5 C5orf56

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism/oxidation, carnitine shuttle.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Fatty acid metabolism, protein N-myristoylation.8[1], 9[2], 10[3]

Ratio Explanation:

The ratio of acetylcarnitine to myristate may reflect altered fatty acid oxidation due to impaired carnitine transport by SLC22A5, affecting substrates like myristate.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in SLC22A5 impact carnitine transport, altering fatty acid metabolism and subsequently influencing hematological traits like platelet and monocyte counts.11[1], 12[2], 13[3], 14[4] This may be due to the role of carnitine in platelet energy metabolism and function.15[5], 16[6], 17[7]

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