ergothioneine to cerotoylcarnitine (c26)*

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 cerotoylcarnitine (c26)*
Metabolite Accession: GCST90200136
Name: cerotoylcarnitine (c26)*
Hmdb Id: HMDB0006347
Super Pathway: NA
Sub Pathway: NA
Inchikey: KOCKWDDTAHPJSX

Associated Genomic Regions

Region: rs11743851

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
0.188
Position:
130613600
SE (Ratio):
0.022
Effect Allele:
C
Z-score (Ratio):
8.492
Reference Allele:
T
-log10(P):
-38.432
MAF:
0.383
Beta (Num):
0.094
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.095
SE (Den):
0.015
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):
0.268
Position:
131677642
SE (Ratio):
0.022
Effect Allele:
G
Z-score (Ratio):
12.438
Reference Allele:
A
-log10(P):
-80.103
MAF:
0.473
Beta (Num):
0.138
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.130
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 SLC22A5 P4HA2 PDLIM4 C5orf56

Region: rs12210538

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
0.446
Position:
110760008
SE (Ratio):
0.025
Effect Allele:
G
Z-score (Ratio):
17.911
Reference Allele:
A
-log10(P):
-163.522
MAF:
0.240
Beta (Num):
0.199
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.246
SE (Den):
0.017
No CNV overlap
rQTL cluster:
103
Reaction Distance:
NA
Closest Genes:
SLC22A16 DDO METTL24 CDK19 CDC40

LLM Analysis

Numerator Metabolite Explanation:

Numerator Pathway(s): Ergothioneine metabolism, antioxidant defense.9[1], 14[2], 15[3]

Denominator Metabolite Explanation:

Denominator Pathway(s): Very long-chain fatty acid beta-oxidation.16[1], 17[2], 18[3]

Ratio Explanation:

Ratio Interpretation: This ratio may reflect cellular antioxidant status (ergothioneine) relative to very long-chain fatty acid metabolism, potentially influenced by the ergothioneine transporter SLC22A4.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Ratio-Phenotype Link: Genetic variants in the ergothioneine transporter SLC22A4 are associated with inflammatory bowel diseases like Crohn's and ulcerative colitis.11[1], 12[2], 13[3], 19[4] Altered ergothioneine transport can impact inflammatory responses and disease risk.12[5], 20[6], 21[7], 22[8] Ergothioneine itself shows protective effects in colitis models.23[9], 24[10]

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