2-hydroxybutyrate/2-hydroxyisobutyrate to mannose

Numerator Metabolite

Structure of 2-hydroxybutyrate/2-hydroxyisobutyrate
Metabolite Accession: GCST90200032
Name: 2-hydroxybutyrate/2-hydroxyisobutyrate
Hmdb Id: HMDB0000729,HMDB00008
Super Pathway: NA
Sub Pathway: NA
Inchikey: BWLBGMIXKSTLSX

Denominator Metabolite

Structure of mannose
Metabolite Accession: GCST90200435
Name: mannose
Hmdb Id: HMDB0000169
Super Pathway: NA
Sub Pathway: NA
Inchikey: GZCGUPFRVQAUEE

Associated Genomic Regions

Region: rs1260326

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):
0.339
Position:
27730940
SE (Ratio):
0.018
Effect Allele:
T
Z-score (Ratio):
19.261
Reference Allele:
C
-log10(P):
-188.672
MAF:
0.412
Beta (Num):
0.077
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.261
SE (Den):
0.015
No CNV overlap
rQTL cluster:
152
Reaction Distance:
10.0
Closest Genes:
GCKR FNDC4 IFT172 AC109829.1 KRTCAP3

LLM Analysis

Numerator Metabolite Explanation:

Amino acid catabolism, glutathione synthesis.4[1], 5[2]

Denominator Metabolite Explanation:

Glycolysis, Glycosylation.6[1], 7[2]

Ratio Explanation:

The ratio indicates a potential shift from carbohydrate metabolism toward amino acid catabolism and oxidative stress, a state linked to GCKR-influenced metabolic dysregulation.2[1], 8[2], 9[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

GCKR variants are linked to metabolic syndrome, including T2D, dyslipidemia, and gout.3[1], 10[2] The ratio likely reflects hepatic metabolic stress (amino acid catabolism vs. glucose/mannose handling) driven by GCKR dysfunction, contributing to phenotypes like cholelithiasis, gout, and T2D, which are all strongly associated.

Phenotype Driver:

Gene-centric:GCKR

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