ergothioneine to n,n,n-trimethyl-5-aminovalerate

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 n,n,n-trimethyl-5-aminovalerate
Metabolite Accession: GCST90200147
Name: n,n,n-trimethyl-5-aminovalerate
Hmdb Id: HMDB0240732
Super Pathway: NA
Sub Pathway: NA
Inchikey: CDLVFVFTRQPQFU

Associated Genomic Regions

Region: rs149218

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):
-0.325
Position:
131669690
SE (Ratio):
0.024
Effect Allele:
C
Z-score (Ratio):
-13.658
Reference Allele:
T
-log10(P):
-96.121
MAF:
0.372
Beta (Num):
-0.146
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.179
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 Biosynthesis5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Lysine Metabolism8[1]

Ratio Explanation:

The ratio reflects the relative transport activity of SLC22A4 and SLC22A5, influencing the balance of an antioxidant (ergothioneine) and a metabolite involved in fatty acid oxidation (n,n,n-trimethyl-5-aminovalerate).

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

The genetically influenced ergothioneine to n,n,n-trimethyl-5-aminovalerate ratio may impact cellular processes like inflammation and oxidative stress, potentially affecting hematological parameters like neutrophil and eosinophil counts, which are associated phenotypes. The link to uric acid could be through purine metabolism, influenced by cellular redox state.

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