ergothioneine to 3-hydroxyoleoylcarnitine

Numerator Metabolite

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

Denominator Metabolite

Structure of 3-hydroxyoleoylcarnitine
Metabolite Accession: GCST90200158
Name: 3-hydroxyoleoylcarnitine
Hmdb Id: HMDB0240761
Super Pathway: NA
Sub Pathway: NA
Inchikey: YBCVTTMMURGSEY

Associated Genomic Regions

Region: rs273913

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):
-0.259
Position:
131661156
SE (Ratio):
0.023
Effect Allele:
T
Z-score (Ratio):
-11.154
Reference Allele:
C
-log10(P):
-64.849
MAF:
0.379
Beta (Num):
-0.148
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.110
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 P4HA2 SLC22A5 PDLIM4 C5orf56

LLM Analysis

Numerator Metabolite Explanation:

Ergothioneine transport and metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.6[1], 7[2]

Ratio Explanation:

The ratio reflects the balance between ergothioneine transport via SLC22A4 and carnitine-dependent fatty acid metabolism, influenced by the co-regulated transporter SLC22A5.1[1], 8[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in the SLC22A4/SLC22A5 locus alters the transport of the antioxidant ergothioneine and carnitine, which is essential for fatty acid oxidation.1[1], 8[2], 3[3] This likely dysregulates inflammatory responses, contributing to nasal polyps, hypertension, and altered neutrophil counts.3[4], 9[5], 10[6], 11[7]

Phenotype Driver:

Gene-centric:SLC22A4

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