ergothioneine to lignoceroylcarnitine (c24)*

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 lignoceroylcarnitine (c24)*
Metabolite Accession: GCST90200137
Name: lignoceroylcarnitine (c24)*
Hmdb Id: HMDB0240665
Super Pathway: NA
Sub Pathway: NA
Inchikey: YDUFZFUYBBPVLJ

Associated Genomic Regions

Region: rs1030271

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
0.185
Position:
130632655
SE (Ratio):
0.022
Effect Allele:
G
Z-score (Ratio):
8.299
Reference Allele:
C
-log10(P):
-36.794
MAF:
0.383
Beta (Num):
0.094
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.091
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
CDC42SE2 LYRM7 HINT1 RAPGEF6 CTC-432M15.3

Region: rs10075801

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
0.250
Position:
131677642
SE (Ratio):
0.022
Effect Allele:
G
Z-score (Ratio):
11.569
Reference Allele:
A
-log10(P):
-69.600
MAF:
0.473
Beta (Num):
0.138
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.113
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 SLC22A5 P4HA2 PDLIM4 C5orf56

LLM Analysis

Numerator Metabolite Explanation:

Ergothioneine transport, antioxidant activity.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Very long-chain fatty acid metabolism/beta-oxidation.7[1], 8[2], 9[3]

Ratio Explanation:

The ratio reflects the transport activity of the SLC22A4/SLC22A5 locus, balancing the uptake of the antioxidant ergothioneine against the metabolism of very long-chain fatty acids.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in SLC22A4/SLC22A5 are associated with inflammatory bowel disease.10[1], 11[2], 12[3] Altered transporter function likely impacts the balance of the antioxidant ergothioneine and pro-inflammatory lipids, contributing to the inflammatory phenotype seen in diseases like Crohn's, ulcerative colitis, and psoriasis.4[4], 13[5], 12[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