n-methylproline to stachydrine

Numerator Metabolite

Structure of n-methylproline
Metabolite Accession: GCST90199836
Name: n-methylproline
Hmdb Id: HMDB0094696
Super Pathway: NA
Sub Pathway: NA
Inchikey: CWLQUGTUXBXTLF

Denominator Metabolite

Structure of stachydrine
Metabolite Accession: GCST90199738
Name: stachydrine
Hmdb Id: HMDB0004827
Super Pathway: NA
Sub Pathway: NA
Inchikey: CMUNUTVVOOHQPW

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):
-0.104
Position:
61413353
SE (Ratio):
0.010
Effect Allele:
G
Z-score (Ratio):
-10.023
Reference Allele:
A
-log10(P):
-52.768
MAF:
0.166
Beta (Num):
-0.072
Novel Locus:
Yes ✔️
SE (Num):
0.021
Beta (Den):
0.031
SE (Den):
0.021
No CNV overlap
rQTL cluster:
74
Reaction Distance:
NA
Closest Genes:
SLC16A9 CCDC6 FAM13C C10orf40 ANK3

LLM Analysis

Numerator Metabolite Explanation:

Proline Metabolism

Denominator Metabolite Explanation:

Proline Betaine Biosynthesis

Ratio Explanation:

N-methylproline is a direct precursor to stachydrine (proline betaine) via methylation.6[1], 7[2], 8[3] The ratio reflects the efficiency of this conversion step.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in the urate transporter SLC16A9 are associated with gout and altered serum uric acid.1[1], 2[2], 9[3] The altered n-methylproline to stachydrine ratio may be a secondary effect, potentially linked to competitive transport with uric acid, contributing to hyperuricemia and gout.

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