histidine betaine (hercynine)* to acetylcarnitine (c2)

Numerator Metabolite

Structure of histidine betaine (hercynine)*
Metabolite Accession: GCST90199927
Name: histidine betaine (hercynine)*
Hmdb Id: HMDB0029422
Super Pathway: NA
Sub Pathway: NA
Inchikey: GPPYTCRVKHULJH

Denominator Metabolite

Structure of acetylcarnitine (c2)
Metabolite Accession: GCST90199669
Name: acetylcarnitine (c2)
Hmdb Id: HMDB0000201
Super Pathway: NA
Sub Pathway: NA
Inchikey: RDHQFKQIGNGIED

Associated Genomic Regions

Region: rs11950562

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
0.209
Position:
131652529
SE (Ratio):
0.022
Effect Allele:
C
Z-score (Ratio):
9.425
Reference Allele:
A
-log10(P):
-46.896
MAF:
0.477
Beta (Num):
0.100
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.110
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A4 P4HA2 PDLIM4 SLC22A5 C5orf56

LLM Analysis

Numerator Metabolite Explanation:

Histidine metabolism, ergothioneine biosynthesis precursor.7[1], 8[2], 9[3]

Denominator Metabolite Explanation:

Fatty acid oxidation, carnitine shuttle.10[1], 11[2], 12[3], 13[4]

Ratio Explanation:

The ratio likely reflects altered transport activity by SLC22A4/SLC22A5, impacting the balance between hercynine/ergothioneine (antioxidant) and acetylcarnitine (energy metabolism) transport.14[1], 15[2], 16[3], 17[4]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in SLC22A4/A5 alter transport of hercynine/ergothioneine (antioxidant/anti-inflammatory) and carnitine/acetylcarnitine (energy). This dysregulation can modulate inflammatory responses, contributing to phenotypes like asthma, nasal polyps, and psoriatic arthropathies, which have an inflammatory basis.18[1], 14[2], 19[3], 20[4], 16[5]

Phenotype Driver:

Gene-centric:SLC22A4/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