ergothioneine to tiglylcarnitine (c5:1-dc)

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 tiglylcarnitine (c5:1-dc)
Metabolite Accession: GCST90199800
Name: tiglylcarnitine (c5:1-dc)
Hmdb Id: HMDB0002366
Super Pathway: NA
Sub Pathway: NA
Inchikey: WURBQCVBQNMUQT

Associated Genomic Regions

Region: rs273913

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

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
5
Beta (Ratio):
-0.222
Position:
131661156
SE (Ratio):
0.020
Effect Allele:
T
Z-score (Ratio):
-10.984
Reference Allele:
C
-log10(P):
-62.949
MAF:
0.379
Beta (Num):
-0.148
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.073
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 Biosynthesis15[1], 16[2], 17[3], 18[4]

Denominator Metabolite Explanation:

Isoleucine degradation, Fatty acid metabolism19[1], 20[2], 21[3]

Ratio Explanation:

The ratio reflects the balance between the transport of ergothioneine (via SLC22A4) and carnitine intermediates (related to SLC22A5 function), which are both involved in cellular transport.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in SLC22A4/SLC22A5, which are colocalized eQTLs, likely alter the transport of their respective substrates, ergothioneine and carnitine derivatives. This altered transport may influence inflammatory and metabolic processes, leading to changes in hematological parameters like neutrophil and lymphocyte counts.22[1], 23[2], 24[3], 25[4], 26[5], 27[6], 28[7]

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