ergothioneine to palmitoylcarnitine (c16)

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 palmitoylcarnitine (c16)
Metabolite Accession: GCST90199666
Name: palmitoylcarnitine (c16)
Hmdb Id: HMDB0000222
Super Pathway: NA
Sub Pathway: NA
Inchikey: XOMRRQXKHMYMOC

Associated Genomic Regions

Region: rs11242109

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
0.257
Position:
131677047
SE (Ratio):
0.022
Effect Allele:
T
Z-score (Ratio):
11.595
Reference Allele:
G
-log10(P):
-69.906
MAF:
0.478
Beta (Num):
0.134
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.123
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):
0.369
Position:
110760008
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
14.329
Reference Allele:
A
-log10(P):
-105.548
MAF:
0.240
Beta (Num):
0.199
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.169
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:

Ergothioneine biosynthesis / antioxidant activity6[1], 7[2], 8[3], 9[4]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation10[1], 11[2], 12[3], 13[4], 14[5]

Ratio Explanation:

The ratio may reflect a balance between antioxidant uptake (ergothioneine) and fatty acid metabolism (palmitoylcarnitine), influenced by the transporter SLC22A4.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced SLC22A4 function may decrease ergothioneine uptake, leading to increased oxidative stress and inflammation, which is a known factor in psoriatic arthropathies.15[1], 16[2], 17[3], 18[4]

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