hexanoylglycine to betaine

Numerator Metabolite

Structure of hexanoylglycine
Metabolite Accession: GCST90199781
Name: hexanoylglycine
Hmdb Id: HMDB0000701
Super Pathway: NA
Sub Pathway: NA
Inchikey: UPCKIPHSXMXJOX

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):
0.482
Position:
211540507
SE (Ratio):
0.026
Effect Allele:
A
Z-score (Ratio):
18.810
Reference Allele:
C
-log10(P):
-180.068
MAF:
0.333
Beta (Num):
0.326
Novel Locus:
No
SE (Num):
0.019
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:

Fatty acid metabolism, Acyl-glycine metabolism.4[1]

Denominator Metabolite Explanation:

Choline metabolism, one-carbon metabolism, osmoprotection.5[1], 6[2]

Ratio Explanation:

CPS1 dysfunction may alter nitrogen balance and glycine metabolism, indirectly affecting betaine, while also promoting fatty acid oxidation, potentially influencing hexanoylglycine levels.7[1], 8[2], 9[3], 10[4]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function due to the missense variant impairs urea cycle activity, leading to metabolic dysregulation that impacts nitrogen balance, fatty acid oxidation, and osmolyte levels.11[1], 7[2], 10[3] This systemic metabolic stress contributes to the development of renal failure and cholelithiasis.12[4], 13[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