n,n,n-trimethyl-alanylproline betaine (tmap) to deoxycarnitine

Numerator 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

Denominator Metabolite

Structure of deoxycarnitine
Metabolite Accession: GCST90199813
Name: deoxycarnitine
Hmdb Id: HMDB0001161
Super Pathway: NA
Sub Pathway: NA
Inchikey: JHPNVNIEXXLNTR

Associated Genomic Regions

Region: rs12356193

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):
0.201
Position:
61413353
SE (Ratio):
0.019
Effect Allele:
G
Z-score (Ratio):
10.366
Reference Allele:
A
-log10(P):
-56.303
MAF:
0.166
Beta (Num):
0.068
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.132
SE (Den):
0.019
No CNV overlap
rQTL cluster:
74
Reaction Distance:
NA
Closest Genes:
SLC16A9 CCDC6 FAM13C C10orf40 ANK3

LLM Analysis

Numerator Metabolite Explanation:

Dipeptide metabolism.6[1]

Denominator Metabolite Explanation:

Carnitine biosynthesis, fatty acid metabolism.7[1], 8[2], 9[3]

Ratio Explanation:

The SLC16A9 transporter may influence the balance of TMAP and deoxycarnitine; genetic variants in SLC16A9 are associated with deoxycarnitine and carnitine levels.10[1], 11[2], 12[3], 13[4], 14[5]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in the SLC16A9 transporter are linked to altered carnitine/deoxycarnitine levels and gout.2[1], 10[2], 12[3] TMAP is a marker for kidney function which is also related to gout, suggesting SLC16A9 dysfunction impacts both metabolite levels and contributes to gout development through altered urate and metabolite transport.2[4], 15[5], 16[6], 5[7]

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