ergothioneine to myristoylcarnitine (c14)

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 myristoylcarnitine (c14)
Metabolite Accession: GCST90199730
Name: myristoylcarnitine (c14)
Hmdb Id: HMDB000506
Super Pathway: NA
Sub Pathway: NA
Inchikey: PSHXNVGSVNEJBD

Associated Genomic Regions

Region: rs11242109

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
0.249
Position:
131677047
SE (Ratio):
0.022
Effect Allele:
T
Z-score (Ratio):
11.125
Reference Allele:
G
-log10(P):
-64.529
MAF:
0.478
Beta (Num):
0.134
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.115
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 biosynthesis, antioxidant and anti-inflammatory pathways.7[1], 8[2], 9[3], 10[4]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, carnitine transport.11[1], 12[2], 13[3], 14[4]

Ratio Explanation:

The ratio reflects the balance between the transport of the antioxidant ergothioneine and carnitine, which is essential for fatty acid metabolism, both influenced by SLC22A4/A5.3[1], 15[2], 16[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced SLC22A4 function due to genetic variants may impair ergothioneine uptake, leading to increased oxidative stress and inflammation, contributing to phenotypes like inflammatory diseases and metabolic disturbances, while also influencing carnitine homeostasis.5[1], 17[2], 18[3], 19[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