isovalerylglycine to betaine

Numerator Metabolite

Structure of isovalerylglycine
Metabolite Accession: GCST90199785
Name: isovalerylglycine
Hmdb Id: HMDB00678
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZRQXMKMBBMNNQC

Denominator Metabolite

Structure of betaine
Metabolite Accession: GCST90200425
Name: betaine
Hmdb Id: HMDB0000043
Super Pathway: NA
Sub Pathway: NA
Inchikey: KWIUHFFTVRNATP

Associated Genomic Regions

Region: rs1047891

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
2
Beta (Ratio):
0.376
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
16.156
Reference Allele:
C
-log10(P):
-133.528
MAF:
0.314
Beta (Num):
0.219
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.156
SE (Den):
0.016
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Leucine catabolism6[1], 7[2]

Denominator Metabolite Explanation:

Choline metabolism, one-carbon metabolism8[1], 9[2], 10[3], 11[4]

Ratio Explanation:

Elevated isovalerylglycine indicates disrupted leucine metabolism, while betaine levels reflect methylation capacity and osmolyte function; their ratio may signify concurrent metabolic stresses.8[1], 6[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired CPS1 function from a missense variant can disrupt the urea cycle, leading to nitrogen handling issues that stress the kidneys (renal failure, chronic kidney disease).12[1], 13[2] Betaine's role as an osmoprotectant is also critical for kidney function, potentially linking it to this phenotype.8[3], 9[4]

Phenotype Driver:

Gene-centric:CPS1

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