ergothioneine to nervonoylcarnitine (c24:1)*

Numerator Metabolite

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

Denominator Metabolite

Metabolite Accession: GCST90200143
Name: nervonoylcarnitine (c24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs274557

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
-0.274
Position:
131721204
SE (Ratio):
0.022
Effect Allele:
C
Z-score (Ratio):
-12.461
Reference Allele:
T
-log10(P):
-80.392
MAF:
0.378
Beta (Num):
-0.148
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.127
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A5 C5orf56 SLC22A4 P4HA2 IRF1

LLM Analysis

Numerator Metabolite Explanation:

Ergothioneine transport and antioxidant activity.7[1], 8[2], 9[3], 10[4], 11[5]

Denominator Metabolite Explanation:

Fatty acid metabolism and transport.12[1], 13[2], 14[3], 15[4], 16[5]

Ratio Explanation:

The ratio likely reflects cellular uptake of the antioxidant ergothioneine, mediated by SLC22A4, relative to fatty acid metabolism.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in *SLC22A4* alter ergothioneine transport, influencing its levels and potentially modulating inflammatory responses.3[1], 4[2], 6[3] This is linked to phenotypes like nasal polyps and altered immune cell counts, given ergothioneine's role as an antioxidant and the association of oxidative stress with nasal polyps.3[4], 17[5], 18[6]

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