ergothioneine to beta-hydroxyisovaleroylcarnitine

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 beta-hydroxyisovaleroylcarnitine
Metabolite Accession: GCST90199802
Name: beta-hydroxyisovaleroylcarnitine
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: IGLHHSKNBDXCEY

Associated Genomic Regions

Region: rs273913

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):
-0.263
Position:
131661156
SE (Ratio):
0.020
Effect Allele:
T
Z-score (Ratio):
-13.009
Reference Allele:
C
-log10(P):
-87.420
MAF:
0.379
Beta (Num):
-0.148
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.115
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 Biosynthesis, Histidine Metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Leucine, Isoleucine, and Valine Metabolism.6[1]

Ratio Explanation:

The ratio of ergothioneine to beta-hydroxyisovaleroylcarnitine may reflect the differential transport activity of SLC22A4 and SLC22A5, impacting cellular antioxidant capacity and fatty acid metabolism.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in SLC22A4/A5 influence the transport of ergothioneine, an antioxidant, and beta-hydroxyisovaleroylcarnitine.1[1], 2[2] Altered levels of ergothioneine can impact immune cell counts, such as neutrophils and platelets, due to its role in protecting cells from oxidative stress.7[3], 8[4], 9[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