ergothioneine to dihomo-linoleoylcarnitine (c20:2)*

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: GCST90200144
Name: dihomo-linoleoylcarnitine (c20:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs273913

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
-0.290
Position:
131661156
SE (Ratio):
0.023
Effect Allele:
T
Z-score (Ratio):
-12.514
Reference Allele:
C
-log10(P):
-81.063
MAF:
0.379
Beta (Num):
-0.148
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.142
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 P4HA2 SLC22A5 PDLIM4 C5orf56

Region: rs12210538

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
0.517
Position:
110760008
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
19.821
Reference Allele:
A
-log10(P):
-199.661
MAF:
0.240
Beta (Num):
0.199
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.318
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:

Ergothioneine transport, antioxidant activity.4[1], 5[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, carnitine shuttle.6[1], 7[2]

Ratio Explanation:

The ratio reflects the balance between the transport of ergothioneine (numerator) and acylcarnitines (denominator) by related SLC22A family transporters, SLC22A4 and SLC22A5.8[1]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in SLC22A4 alters the transport of the antioxidant ergothioneine, which may affect the function and counts of various immune cells. This alteration is reflected in associations with monocyte, lymphocyte, and other blood cell counts, as well as metabolic markers like HbA1c and uric acid.3[1], 9[2], 10[3]

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