histidine betaine (hercynine)* to linolenoylcarnitine (c18:3)*

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 linolenoylcarnitine (c18:3)*
Metabolite Accession: GCST90200132
Name: linolenoylcarnitine (c18:3)*
Hmdb Id: HMDB0006469
Super Pathway: NA
Sub Pathway: NA
Inchikey: MJLXQSQYKZWZCB

Associated Genomic Regions

Region: rs2631367

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):
0.198
Position:
131705458
SE (Ratio):
0.022
Effect Allele:
C
Z-score (Ratio):
8.844
Reference Allele:
G
-log10(P):
-41.529
MAF:
0.481
Beta (Num):
0.096
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.102
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
SLC22A5 SLC22A4 C5orf56 P4HA2 PDLIM4

LLM Analysis

Numerator Metabolite Explanation:

Histidine metabolism, Ergothioneine biosynthesis.9[1], 10[2], 11[3]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, Carnitine shuttle.12[1], 13[2], 5[3]

Ratio Explanation:

The ratio may reflect altered transport activity by SLC22A4/A5, which transport both ergothioneine (downstream of histidine betaine) and carnitine conjugates, affecting inflammatory and energy pathways.4[1], 14[2], 15[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in the SLC22A4/A5 transporters are linked to Crohn's disease.6[1], 7[2], 8[3], 16[4] Altered transport of the antioxidant ergothioneine (from histidine betaine) and carnitine could impact intestinal inflammation and energy metabolism, contributing to inflammatory bowel disease and Crohn's disease phenotypes.1[5], 2[6], 3[7]

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