cinnamoylglycine to betaine

Numerator Metabolite

Structure of cinnamoylglycine
Metabolite Accession: GCST90199888
Name: cinnamoylglycine
Hmdb Id: HMDB0011621
Super Pathway: NA
Sub Pathway: NA
Inchikey: YAADMLWHGMUGQL

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

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Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
0.364
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
16.069
Reference Allele:
C
-log10(P):
-132.112
MAF:
0.312
Beta (Num):
0.208
Novel Locus:
No
SE (Num):
0.017
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:

Xenobiotic metabolism, Glycine conjugation.4[1], 5[2]

Denominator Metabolite Explanation:

Choline metabolism, Methyl donor pathway.6[1], 7[2]

Ratio Explanation:

CPS1 dysfunction alters glycine availability, potentially affecting both the synthesis of cinnamoylglycine and the methyl donor function of the betaine pathway.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

CPS1 deficiency impairs the urea cycle, leading to hyperammonemia, which is directly toxic and can cause renal dysfunction.8[1], 9[2] This systemic nitrogen imbalance is reflected in altered glycine-dependent metabolism, linking to cholelithiasis and kidney disease.10[3], 11[4], 12[5]

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