ergothioneine to homostachydrine*

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 homostachydrine*
Metabolite Accession: GCST90199787
Name: homostachydrine*
Hmdb Id: HMDB0033433
Super Pathway: NA
Sub Pathway: NA
Inchikey: XULZWQRXYTVUTE

Associated Genomic Regions

Region: rs2516788

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
5
Beta (Ratio):
-0.334
Position:
131715565
SE (Ratio):
0.023
Effect Allele:
C
Z-score (Ratio):
-14.538
Reference Allele:
G
-log10(P):
-108.579
MAF:
0.371
Beta (Num):
-0.146
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.188
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A5 C5orf56 SLC22A4 P4HA2 IRF1

LLM Analysis

Numerator Metabolite Explanation:

Ergothioneine transport.1[1], 11[2]

Denominator Metabolite Explanation:

Pipecolic acid metabolism.12[1], 13[2]

Ratio Explanation:

The ratio likely reflects the transport activity of SLC22A4, which transports ergothioneine and may interact with homostachydrine, influencing their relative levels.14[1], 15[2], 16[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced SLC22A4 function alters ergothioneine levels, a potent antioxidant, potentially impacting inflammatory and immune responses, which is consistent with the associated inflammatory bowel diseases, psoriasis, and gout phenotypes.4[1], 17[2], 5[3], 6[4], 8[5], 9[6], 10[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