histidine betaine (hercynine)* to margaroylcarnitine (c17)*

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 margaroylcarnitine (c17)*
Metabolite Accession: GCST90199929
Name: margaroylcarnitine (c17)*
Hmdb Id: HMDB0006210
Super Pathway: NA
Sub Pathway: NA
Inchikey: DWSFAVOTORHAAL

Associated Genomic Regions

Region: rs11242109

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
0.197
Position:
131677047
SE (Ratio):
0.023
Effect Allele:
T
Z-score (Ratio):
8.683
Reference Allele:
G
-log10(P):
-40.101
MAF:
0.480
Beta (Num):
0.096
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.101
SE (Den):
0.015
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):
0.233
Position:
110760008
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
8.844
Reference Allele:
A
-log10(P):
-41.523
MAF:
0.241
Beta (Num):
0.113
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.120
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:

Histidine metabolism, ergothioneine biosynthesis.8[1], 9[2], 7[3], 10[4]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, carnitine shuttle.11[1], 12[2]

Ratio Explanation:

The ratio likely reflects the competitive transport of hercynine and acylcarnitines by SLC22A4/SLC22A5, where altered transporter function shifts the balance of these metabolites.13[1], 14[2], 15[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Variants in the SLC22A4 transporter gene, linked to inflammatory diseases like psoriatic arthropathy and asthma, likely alter the balance of hercynine and acylcarnitines.16[1], 17[2], 18[3] This dysregulation may contribute to inflammatory phenotypes by affecting cellular energy and inflammatory pathways.19[4], 20[5]

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