5-methylthioadenosine (mta) to glutarylcarnitine (c5-dc)

Numerator Metabolite

Structure of 5-methylthioadenosine (mta)
Metabolite Accession: GCST90200359
Name: 5-methylthioadenosine (mta)
Hmdb Id: HMDB0001173
Super Pathway: NA
Sub Pathway: NA
Inchikey: WUUGFSXJNOTRMR

Denominator Metabolite

Structure of glutarylcarnitine (c5-dc)
Metabolite Accession: GCST90199799
Name: glutarylcarnitine (c5-dc)
Hmdb Id: HMDB0013130
Super Pathway: NA
Sub Pathway: NA
Inchikey: NXJAXUYOQLTISD

Associated Genomic Regions

Region: rs662138

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:
6
Beta (Ratio):
-0.213
Position:
160564476
SE (Ratio):
0.025
Effect Allele:
G
Z-score (Ratio):
-8.381
Reference Allele:
C
-log10(P):
-37.485
MAF:
0.176
Beta (Num):
-0.115
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
0.099
SE (Den):
0.020
No CNV overlap
rQTL cluster:
97
Reaction Distance:
NA
Closest Genes:
SLC22A1 SLC22A2 IGF2R SLC22A3 MAS1

LLM Analysis

Numerator Metabolite Explanation:

Methionine salvage, polyamine biosynthesis.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Lysine and tryptophan degradation.7[1], 8[2], 9[3]

Ratio Explanation:

A genetic variant that decreases SLC22A1 function is associated with increased glutarylcarnitine, suggesting the ratio reflects altered hepatic transport of acylcarnitines.10[1], 11[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

The genetic locus colocalizes with both SLC22A1 (eQTL) and LPA (pQTL). Since LPA is a causal factor for hypercholesterolemia, the genetic variant likely drives the lipoprotein phenotype, with the metabolite ratio being a correlated biomarker of altered SLC22A1-mediated transport.12[1], 13[2], 14[3]

Phenotype Driver:

Gene-centric:LPA

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