ergothioneine to oleoylcarnitine (c18:1)

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: GCST90199774
Name: NA
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs200838

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
0.254
Position:
131710399
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
11.506
Reference Allele:
C
-log10(P):
-68.872
MAF:
0.479
Beta (Num):
0.134
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.120
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A5 SLC22A4 C5orf56 P4HA2 PDLIM4

Region: rs12210538

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
0.406
Position:
110760008
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
15.869
Reference Allele:
A
-log10(P):
-128.904
MAF:
0.240
Beta (Num):
0.199
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.206
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:

Ergothioneine Biosynthesis8[1], 9[2], 10[3]

Denominator Metabolite Explanation:

Fatty Acid β-oxidation 11[1], 12[2], 13[3], 14[4], 15[5]

Ratio Explanation:

The ratio reflects cellular import of ergothioneine versus the transport of oleoylcarnitine for mitochondrial fatty acid oxidation. Altered SLC22A4/5 function may impact this balance.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced SLC22A4 function, potentially decreasing ergothioneine uptake, is linked to an increased risk for psoriatic arthropathies. 6[1], 7[2], 16[3], 17[4]This suggests a role for ergothioneine's antioxidant or anti-inflammatory properties in the disease's development, where impaired transport could lead to increased inflammation and disease susceptibility.

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