3-hydroxyhexanoylcarnitine (1) to n,n,n-trimethyl-alanylproline betaine (tmap)

Numerator Metabolite

Structure of 3-hydroxyhexanoylcarnitine (1)
Metabolite Accession: GCST90200228
Name: 3-hydroxyhexanoylcarnitine (1)
Hmdb Id: HMDB0013131
Super Pathway: NA
Sub Pathway: NA
Inchikey: VYEONLJQPYRKAN

Denominator Metabolite

Structure of n,n,n-trimethyl-alanylproline betaine (tmap)
Metabolite Accession: GCST90200181
Name: n,n,n-trimethyl-alanylproline betaine (tmap)
Hmdb Id: HMDB0240365
Super Pathway: NA
Sub Pathway: NA
Inchikey: KXONJPJIFNGMCN

Associated Genomic Regions

Region: rs11006681

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:
10
Beta (Ratio):
-0.223
Position:
61429527
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-9.746
Reference Allele:
G
-log10(P):
-50.001
MAF:
0.165
Beta (Num):
-0.151
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.071
SE (Den):
0.018
No CNV overlap
rQTL cluster:
74
Reaction Distance:
NA
Closest Genes:
SLC16A9 CCDC6 C10orf40 FAM13C ANK3

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation

Denominator Metabolite Explanation:

Exogenous/Gut microbiome metabolism

Ratio Explanation:

The ratio may reflect competitive transport of 3-hydroxyhexanoylcarnitine and TMAP by the SLC16A9 transporter, which has been linked to urate homeostasis and gout.1[1], 6[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in the transporter SLC16A9 likely alters its function, impacting serum levels of its substrates, including carnitines and TMAP, thus changing their ratio.1[1], 2[2] SLC16A9 dysfunction is independently linked to altered urate and triglyceride metabolism, explaining the association with gout.1[3], 3[4], 7[5], 8[6]

Phenotype Driver:

Gene-centric:SLC16A9

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