ergothioneine to carnitine C18:2

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 linoleoylcarnitine (c18:2)*
Metabolite Accession: GCST90199916
Name: linoleoylcarnitine (c18:2)*
Hmdb Id: HMDB0006469
Super Pathway: NA
Sub Pathway: NA
Inchikey: MJLXQSQYKZWZCB

Associated Genomic Regions

Region: rs273913

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
-0.271
Position:
131661156
SE (Ratio):
0.023
Effect Allele:
T
Z-score (Ratio):
-11.659
Reference Allele:
C
-log10(P):
-70.653
MAF:
0.379
Beta (Num):
-0.148
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.122
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):
0.500
Position:
110760008
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
19.202
Reference Allele:
A
-log10(P):
-187.537
MAF:
0.240
Beta (Num):
0.199
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.301
SE (Den):
0.017
No CNV overlap
rQTL cluster:
103
Reaction Distance:
NA
Closest Genes:
SLC22A16 DDO METTL24 CDK19 CDC40

LLM Analysis

Numerator Metabolite Explanation:

Ergothioneine Biosynthesis5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Fatty Acid Metabolism8[1], 9[2], 10[3]

Ratio Explanation:

The ratio reflects the balance between the transport of ergothioneine by SLC22A4 and carnitine by SLC22A5, both of which are colocalized genes.1[1], 2[2], 3[3], 4[4], 11[5], 12[6], 13[7], 14[8]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced SLC22A5 function could decrease carnitine uptake, potentially contributing to inflammation seen in nasal polyps.15[1] Conversely, altered SLC22A4 function affects levels of the antioxidant ergothioneine, which may also modulate inflammatory responses underlying nasal polyp formation and impact various blood cell parameters.16[2], 17[3], 18[4]

Phenotype Driver:

Gene-centric:SLC22A5

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