propionylcarnitine (c3) to n,n,n-trimethyl-5-aminovalerate

Numerator Metabolite

Structure of propionylcarnitine (c3)
Metabolite Accession: GCST90199708
Name: propionylcarnitine (c3)
Hmdb Id: HMDB0000824
Super Pathway: NA
Sub Pathway: NA
Inchikey: UFAHZIUFPNSHSL

Denominator Metabolite

Structure of n,n,n-trimethyl-5-aminovalerate
Metabolite Accession: GCST90200147
Name: n,n,n-trimethyl-5-aminovalerate
Hmdb Id: HMDB0240732
Super Pathway: NA
Sub Pathway: NA
Inchikey: CDLVFVFTRQPQFU

Associated Genomic Regions

Region: rs12208357

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
-0.338
Position:
160543148
SE (Ratio):
0.033
Effect Allele:
T
Z-score (Ratio):
-10.137
Reference Allele:
C
-log10(P):
-53.929
MAF:
0.069
Beta (Num):
-0.164
Novel Locus:
No
SE (Num):
0.029
Beta (Den):
0.174
SE (Den):
0.029
No CNV overlap
rQTL cluster:
98
Reaction Distance:
NA
Closest Genes:
SLC22A1 IGF2R SLC22A2 MAS1 SLC22A3

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid and amino acid catabolism.9[1]

Denominator Metabolite Explanation:

Lysine metabolism, gut microbiota-dependent pathway.10[1], 11[2]

Ratio Explanation:

An SLC22A1 variant could differentially affect transport of propionylcarnitine and N,N,N-trimethyl-5-aminovalerate, which is known to inhibit carnitine synthesis, thus altering their systemic ratio.12[1], 13[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered SLC22A1 function affects carnitine homeostasis, impacting fatty acid oxidation.12[1], 14[2], 15[3], 16[4] This disruption of lipid processing likely contributes to the observed phenotypes of disordered lipoprotein metabolism, including altered triglycerides and total cholesterol.14[5], 17[6]

Phenotype Driver:

Gene-centric:SLC22A1

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