2r,3r-dihydroxybutyrate to trans-2-hexenoylglycine

Numerator Metabolite

Structure of 2r,3r-dihydroxybutyrate
Metabolite Accession: GCST90199889
Name: 2r,3r-dihydroxybutyrate
Hmdb Id: HMDB0000498
Super Pathway: NA
Sub Pathway: NA
Inchikey: LOUGYXZSURQALL

Denominator Metabolite

Structure of trans-2-hexenoylglycine
Metabolite Accession: GCST90200160
Name: trans-2-hexenoylglycine
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: AAPHATPOQGNLOZ

Associated Genomic Regions

Region: rs1047891

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:
2
Beta (Ratio):
-0.398
Position:
211540507
SE (Ratio):
0.026
Effect Allele:
A
Z-score (Ratio):
-15.492
Reference Allele:
C
-log10(P):
-122.968
MAF:
0.310
Beta (Num):
-0.152
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.246
SE (Den):
0.018
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Threonine metabolism.5[1]

Denominator Metabolite Explanation:

Fatty acid metabolism (acyl glycine).6[1]

Ratio Explanation:

The ratio may reflect a shift in substrate utilization between amino acid catabolism and fatty acid metabolism, potentially influenced by CPS1's role in nitrogen disposal.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function can lead to nitrogen accumulation and metabolic disturbances.1[1], 3[2] This, coupled with altered fatty acid metabolism, may contribute to the increased risk of cholelithiasis and chronic kidney disease, which are associated with metabolic dysregulation.7[3], 8[4], 9[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