3-methylglutarylcarnitine (2) to phenylacetylcarnitine

Numerator Metabolite

Structure of 3-methylglutarylcarnitine (2)
Metabolite Accession: GCST90199971
Name: 3-methylglutarylcarnitine (2)
Hmdb Id: HMDB0000552
Super Pathway: NA
Sub Pathway: NA
Inchikey: HFCPFJNSBPQJDP

Denominator Metabolite

Metabolite Accession: GCST90199993
Name: phenylacetylcarnitine
Hmdb Id: HMDB0341372
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
0.323
Position:
160564476
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
12.459
Reference Allele:
C
-log10(P):
-80.369
MAF:
0.175
Beta (Num):
0.158
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.165
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:

Leucine catabolism, acetyl-CoA diversion.7[1], 8[2]

Denominator Metabolite Explanation:

Phenylalanine metabolism, gut microbial metabolism.9[1], 10[2]

Ratio Explanation:

none

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

The pQTL colocalization of SOD2 with the metabolite ratio, combined with the association of both with disorders of lipoprotein metabolism and ischemic heart disease, suggests a link between mitochondrial oxidative stress, altered amino acid and lipid metabolism, and the development of cardiovascular phenotypes.

Phenotype Driver:

Gene-centric:SOD2

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