3-methoxytyrosine to 3-methylglutarylcarnitine (2)

Numerator Metabolite

Structure of 3-methoxytyrosine
Metabolite Accession: GCST90200328
Name: 3-methoxytyrosine
Hmdb Id: HMDB0001434
Super Pathway: NA
Sub Pathway: NA
Inchikey: PFDUUKDQEHURQC

Denominator Metabolite

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

Associated Genomic Regions

Region: rs4665972

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:
2
Beta (Ratio):
-0.156
Position:
27598097
SE (Ratio):
0.020
Effect Allele:
T
Z-score (Ratio):
-7.976
Reference Allele:
C
-log10(P):
-34.124
MAF:
0.409
Beta (Num):
-0.080
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.075
SE (Den):
0.015
No CNV overlap
rQTL cluster:
152
Reaction Distance:
NA
Closest Genes:
SNX17 ZNF513 EIF2B4 PPM1G GTF3C2

LLM Analysis

Numerator Metabolite Explanation:

Dopamine and tyrosine metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Leucine metabolism and fatty acid oxidation.6[1], 7[2]

Ratio Explanation:

The ratio of 3-methoxytyrosine, a dopamine metabolite, to 3-methylglutarylcarnitine, a marker of mitochondrial dysfunction, may reflect altered energy metabolism and neurotransmitter turnover.6[1], 5[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

ATRAID gene variants are associated with altered lipid and glucose metabolism, and silencing Atraid affects insulin secretion.8[1], 9[2], 10[3], 3[4] This could drive the observed phenotypes of hypercholesterolemia, type 2 diabetes, and cholelithiasis through dysregulation of both metabolic pathways.

Phenotype Driver:

Gene-centric:ATRAID

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