ergothioneine to margaroylcarnitine (c17)*

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 margaroylcarnitine (c17)*
Metabolite Accession: GCST90199929
Name: margaroylcarnitine (c17)*
Hmdb Id: HMDB0006210
Super Pathway: NA
Sub Pathway: NA
Inchikey: DWSFAVOTORHAAL

Associated Genomic Regions

Region: rs12210538

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:
6
Beta (Ratio):
0.319
Position:
110760008
SE (Ratio):
0.025
Effect Allele:
G
Z-score (Ratio):
12.606
Reference Allele:
A
-log10(P):
-82.227
MAF:
0.240
Beta (Num):
0.199
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.120
SE (Den):
0.018
No CNV overlap
rQTL cluster:
103
Reaction Distance:
NA
Closest Genes:
SLC22A16 DDO METTL24 CDK19 CDC40

LLM Analysis

Numerator Metabolite Explanation:

Histidine/thiol metabolism.12[1], 13[2], 14[3], 15[4], 16[5]

Denominator Metabolite Explanation:

Fatty acid metabolism (acylcarnitine).17[1], 18[2], 19[3], 20[4]

Ratio Explanation:

The ratio likely reflects altered transport activity of SLC22A4 for ergothioneine and SLC22A5 for carnitines, two transporters with roles in inflammatory conditions.21[1], 22[2], 8[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in the SLC22A4 transporter gene, linked to psoriatic arthropathy7[1], 23[2], 24[3], alters its primary function of transporting the antioxidant ergothioneine.1[4], 2[5], 6[6] This dysfunction may contribute to inflammation and is associated with skin neoplasms, potentially due to impaired protection against oxidative damage.25[7], 26[8], 27[9], 28[10], 29[11]

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