ergothioneine to carnitine

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 carnitine
Metabolite Accession: GCST90199621
Name: carnitine
Hmdb Id: HMDB0000062
Super Pathway: NA
Sub Pathway: NA
Inchikey: PHIQHXFUZVPYII

Associated Genomic Regions

Region: rs272893

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
-0.282
Position:
131663062
SE (Ratio):
0.022
Effect Allele:
T
Z-score (Ratio):
-13.052
Reference Allele:
C
-log10(P):
-87.974
MAF:
0.372
Beta (Num):
-0.145
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.136
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 P4HA2 SLC22A5 PDLIM4 C5orf56

LLM Analysis

Numerator Metabolite Explanation:

Ergothioneine uptake and transport.4[1], 5[2]

Denominator Metabolite Explanation:

Carnitine biosynthesis, transport, and fatty acid oxidation.6[1], 7[2], 8[3]

Ratio Explanation:

The ratio reflects the relative transport efficiency and cellular balance between ergothioneine and carnitine, both transported by SLC22A4/SLC22A5, impacting oxidative stress and energy metabolism.1[1], 9[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in SLC22A4/SLC22A5 alters the transport of both ergothioneine and carnitine.1[1], 3[2], 10[3] This dysregulation likely impacts cellular energy homeostasis and antioxidant capacity, contributing to phenotypes related to inflammation and hematopoietic cell counts.9[4], 11[5]

Phenotype Driver:

Gene-centric:SLC22A4/SLC22A5

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