propionylcarnitine (c3) to ergothioneine

Numerator Metabolite

Structure of propionylcarnitine (c3)
Metabolite Accession: GCST90199708
Name: propionylcarnitine (c3)
Hmdb Id: HMDB0000824
Super Pathway: NA
Sub Pathway: NA
Inchikey: UFAHZIUFPNSHSL

Denominator Metabolite

Structure of ergothioneine
Metabolite Accession: GCST90199879
Name: ergothioneine
Hmdb Id: HMDB0003045
Super Pathway: NA
Sub Pathway: NA
Inchikey: SSISHJJTAXXQAX

Associated Genomic Regions

Region: rs149218

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
0.289
Position:
131669690
SE (Ratio):
0.021
Effect Allele:
C
Z-score (Ratio):
13.504
Reference Allele:
T
-log10(P):
-94.012
MAF:
0.373
Beta (Num):
0.143
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.146
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 SLC22A5 P4HA2 PDLIM4 C5orf56

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism, branched-chain amino acid catabolism.4[1]

Denominator Metabolite Explanation:

Ergothioneine biosynthesis.5[1], 6[2]

Ratio Explanation:

This ratio reflects the balance of transport by two related transporters, SLC22A5 for propionylcarnitine and SLC22A4 for ergothioneine, which are encoded by adjacent genes.1[1], 7[2], 8[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in the SLC22A4/SLC22A5 gene region are associated with altered transport of ergothioneine and carnitines. This dysregulation impacts circulating levels of inflammatory markers and blood cell counts, such as neutrophils and eosinophils, consistent with the known roles of these transporters in immune cells.9[1], 10[2], 11[3]

Phenotype Driver:

Gene-centric:SLC22A4/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