ergothioneine to isovalerylcarnitine (c5)

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 isovalerylcarnitine (c5)
Metabolite Accession: GCST90199747
Name: isovalerylcarnitine (c5)
Hmdb Id: HMDB0000688
Super Pathway: NA
Sub Pathway: NA
Inchikey: IGQBPDJNUXPEMT

Associated Genomic Regions

Region: rs11743851

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
0.186
Position:
130613600
SE (Ratio):
0.021
Effect Allele:
C
Z-score (Ratio):
8.859
Reference Allele:
T
-log10(P):
-41.663
MAF:
0.383
Beta (Num):
0.094
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.093
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
CDC42SE2 LYRM7 HINT1 RAPGEF6 CTC-432M15.3

Region: rs273913

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
-0.327
Position:
131661156
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
-15.598
Reference Allele:
C
-log10(P):
-124.618
MAF:
0.379
Beta (Num):
-0.148
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.179
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 P4HA2 SLC22A5 PDLIM4 C5orf56

LLM Analysis

Numerator Metabolite Explanation:

Ergothioneine antioxidant and cytoprotective pathways.5[1], 6[2], 2[3]

Denominator Metabolite Explanation:

Leucine catabolism and fatty acid beta-oxidation.7[1], 8[2]

Ratio Explanation:

The ratio likely reflects the competing transport activities of the SLC22A4/A5 transporters, which handle the antioxidant ergothioneine and carnitine (a precursor to isovalerylcarnitine).9[1], 10[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in SLC22A4/A5 alter transport of ergothioneine (an antioxidant) and carnitine, impacting cellular stress and energy metabolism. This dysfunction is linked to inflammatory conditions like Crohn's disease, ulcerative colitis, and psoriasis, where SLC22A4 is a known risk gene.11[1], 12[2], 13[3], 14[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