acetylcarnitine (c2) to palmitate (16:0)

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 palmitate (16:0)
Metabolite Accession: GCST90200397
Name: palmitate (16:0)
Hmdb Id: HMDB0000220
Super Pathway: NA
Sub Pathway: NA
Inchikey: IPCSVZSSVZVIGE

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):
0.149
Position:
131633355
SE (Ratio):
0.015
Effect Allele:
T
Z-score (Ratio):
10.198
Reference Allele:
C
-log10(P):
-54.558
MAF:
0.372
Beta (Num):
0.112
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.036
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
4.0
Closest Genes:
SLC22A4 P4HA2 PDLIM4 SLC22A5 C5orf56

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation, carnitine shuttle.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Fatty acid synthesis, beta-oxidation.7[1], 8[2], 9[3]

Ratio Explanation:

This ratio reflects the balance between fatty acid transport and oxidation; altered SLC22A5 function can disrupt carnitine-dependent transport of fatty acids like palmitate.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered SLC22A5 expression impacts carnitine homeostasis, which is essential for fatty acid oxidation. This metabolic disruption can affect the function and development of hematopoietic cells, such as monocytes and platelets, leading to the observed changes in their counts.10[1], 11[2], 12[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