ergothioneine to acetylcarnitine (c2)

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

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):
-0.261
Position:
131661156
SE (Ratio):
0.022
Effect Allele:
T
Z-score (Ratio):
-11.930
Reference Allele:
C
-log10(P):
-73.873
MAF:
0.379
Beta (Num):
-0.148
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.113
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 P4HA2 SLC22A5 PDLIM4 C5orf56

LLM Analysis

Numerator Metabolite Explanation:

Ergothioneine transport, antioxidant metabolism.5[1], 6[2], 7[3], 8[4]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, carnitine shuttle.9[1], 10[2], 11[3]

Ratio Explanation:

The ratio likely reflects the balance of transport activity between ergothioneine (by SLC22A4) and carnitine (by SLC22A5), whose adjacent genes are co-regulated.12[1], 1[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in the SLC22A4/5 locus are associated with altered transport of the antioxidant ergothioneine and carnitine, which is crucial for fatty acid metabolism.12[1], 1[2], 3[3] This imbalance may influence inflammatory states, contributing to nasal polyps and affecting circulating neutrophil, eosinophil, and other blood cell counts.3[4], 13[5], 14[6], 15[7]

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