histidine betaine (hercynine)* to cerotoylcarnitine (c26)*

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 cerotoylcarnitine (c26)*
Metabolite Accession: GCST90200136
Name: cerotoylcarnitine (c26)*
Hmdb Id: HMDB0006347
Super Pathway: NA
Sub Pathway: NA
Inchikey: KOCKWDDTAHPJSX

Associated Genomic Regions

Region: rs11242109

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
0.230
Position:
131677047
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
10.703
Reference Allele:
G
-log10(P):
-59.885
MAF:
0.480
Beta (Num):
0.096
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.134
SE (Den):
0.015
No CNV overlap
rQTL cluster:
Reaction Distance:
NA

LLM Analysis

Numerator Metabolite Explanation:

Histidine metabolism, Ergothioneine biosynthesis.6[1], 7[2], 8[3]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, Carnitine shuttle.9[1], 10[2], 11[3]

Ratio Explanation:

The ratio may reflect the differential transport activity of SLC22A4 and SLC22A5, which impacts levels of the antioxidant precursor hercynine and carnitine-dependent metabolites.1[1], 12[2], 13[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in the SLC22A4/SLC22A5 locus alters transport of the antioxidant precursor hercynine and carnitine, impacting inflammatory and oxidative stress responses.14[1], 15[2], 5[3] This is linked to inflammatory phenotypes like psoriatic arthropathies and asthma, which are listed as associated traits.1[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