ergothioneine to eicosenoylcarnitine (c20:1)*

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 eicosenoylcarnitine (c20:1)*
Metabolite Accession: GCST90200148
Name: eicosenoylcarnitine (c20:1)*
Hmdb Id: HMDB0240746
Super Pathway: NA
Sub Pathway: NA
Inchikey: PVOQPLSKYNZHOT

Associated Genomic Regions

Region: rs4705933

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
-0.260
Position:
131678412
SE (Ratio):
0.022
Effect Allele:
G
Z-score (Ratio):
-11.736
Reference Allele:
A
-log10(P):
-71.560
MAF:
0.380
Beta (Num):
-0.148
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.112
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 SLC22A5 P4HA2 C5orf56 PDLIM4

Region: rs12210538

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
0.359
Position:
110760008
SE (Ratio):
0.025
Effect Allele:
G
Z-score (Ratio):
14.338
Reference Allele:
A
-log10(P):
-105.676
MAF:
0.240
Beta (Num):
0.199
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.159
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:

Antioxidant defense pathway.6[1], 7[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.8[1], 9[2]

Ratio Explanation:

The ratio likely reflects the balance of transport activity by the related transporters SLC22A4 (ergothioneine) and SLC22A5 (carnitine), which are co-located and genetically linked.1[1], 10[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in the SLC22A4/5 locus influence the transport of ergothioneine (an antioxidant) and carnitine (involved in energy metabolism).4[1], 1[2] This may alter inflammatory and metabolic states, impacting neutrophil and other blood cell counts.11[3], 12[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