ergothioneine to stearoylcarnitine (c18)

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 stearoylcarnitine (c18)
Metabolite Accession: GCST90199743
Name: stearoylcarnitine (c18)
Hmdb Id: HMDB0000848
Super Pathway: NA
Sub Pathway: NA
Inchikey: FNPHNLNTJNMAEE

Associated Genomic Regions

Region: rs149218

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
-0.273
Position:
131669690
SE (Ratio):
0.023
Effect Allele:
C
Z-score (Ratio):
-12.025
Reference Allele:
T
-log10(P):
-75.019
MAF:
0.372
Beta (Num):
-0.146
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.128
SE (Den):
0.016
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 SLC22A5 P4HA2 PDLIM4 C5orf56

Region: rs12210538

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
0.403
Position:
110760008
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
15.763
Reference Allele:
A
-log10(P):
-127.217
MAF:
0.240
Beta (Num):
0.199
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.204
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 metabolism10[1]

Denominator Metabolite Explanation:

Fatty acid metabolism, Carnitine shuttle11[1], 12[2], 13[3], 14[4], 5[5]

Ratio Explanation:

The ratio reflects the balance between the transport of ergothioneine, an antioxidant, and stearoylcarnitine, a long-chain acylcarnitine involved in fatty acid oxidation.3[1], 13[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced function of SLC22A4 could decrease ergothioneine uptake, potentially impacting oxidative stress levels, while altered SLC22A5/SLC22A16 function could affect carnitine-dependent fatty acid metabolism, both of which may influence hematopoietic cell counts like neutrophils and platelets.

Phenotype Driver:

Gene-centric:SLC22A4/SLC22A5/SLC22A16

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