tridecenedioate (c13:1-dc)* to acetylcarnitine (c2)

Numerator Metabolite

Metabolite Accession: GCST90199867
Name: tridecenedioate (c13:1-dc)*
Hmdb Id: HMDB02327
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: rs2631368

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):
-0.159
Position:
131705297
SE (Ratio):
0.017
Effect Allele:
G
Z-score (Ratio):
-9.414
Reference Allele:
T
-log10(P):
-46.795
MAF:
0.293
Beta (Num):
-0.047
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.113
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A5 SLC22A4 C5orf56 P4HA2 PDLIM4

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid omega-oxidation.4[1]

Denominator Metabolite Explanation:

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

Ratio Explanation:

This ratio reflects a shift from beta-oxidation to omega-oxidation due to impaired carnitine transport by SLC22A5, which decreases acetylcarnitine and increases dicarboxylic acids.1[1], 4[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetically-driven SLC22A5 dysfunction impairs systemic carnitine-dependent energy metabolism, which may affect the development and homeostasis of various hematopoietic cell lineages, leading to altered blood cell counts.7[1], 8[2], 9[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