ergothioneine to ximenoylcarnitine (c26:1)*

Numerator Metabolite

Structure of ergothioneine
Metabolite Accession: GCST90199879
Name: ergothioneine
Hmdb Id: HMDB0003045
Super Pathway: NA
Sub Pathway: NA
Inchikey: SSISHJJTAXXQAX

Denominator Metabolite

Metabolite Accession: GCST90200149
Name: ximenoylcarnitine (c26:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs272849

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
-0.291
Position:
131690241
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-13.199
Reference Allele:
G
-log10(P):
-89.917
MAF:
0.373
Beta (Num):
-0.145
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.146
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 SLC22A5 C5orf56 P4HA2 PDLIM4

Region: rs12210538

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
0.405
Position:
110760008
SE (Ratio):
0.025
Effect Allele:
G
Z-score (Ratio):
16.318
Reference Allele:
A
-log10(P):
-136.163
MAF:
0.240
Beta (Num):
0.199
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.205
SE (Den):
0.018
No CNV overlap
rQTL cluster:
103
Reaction Distance:
NA
Closest Genes:
SLC22A16 DDO METTL24 CDK19 CDC40

LLM Analysis

Numerator Metabolite Explanation:

Histidine metabolism, food component/plant.7[1], 8[2], 9[3]

Denominator Metabolite Explanation:

Fatty acid metabolism, carnitine biosynthesis.10[1], 9[2], 11[3]

Ratio Explanation:

The ratio likely reflects the activity of the SLC22A4 transporter on ergothioneine relative to the pool of long-chain acylcarnitines like ximenoylcarnitine.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in SLC22A4 alters ergothioneine transport.1[1], 3[2], 4[3] Altered levels of this antioxidant are associated with changes in inflammatory and hematological parameters, such as neutrophil and platelet counts, which are among the observed phenotypes.5[4], 12[5], 6[6], 13[7]

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