mannose to alpha-ketobutyrate

Numerator Metabolite

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

Denominator Metabolite

Structure of alpha-ketobutyrate
Metabolite Accession: GCST90200438
Name: alpha-ketobutyrate
Hmdb Id: HMDB0000005
Super Pathway: NA
Sub Pathway: NA
Inchikey: TYEYBOSBBBHJIV

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):
-0.335
Position:
27730940
SE (Ratio):
0.018
Effect Allele:
T
Z-score (Ratio):
-18.338
Reference Allele:
C
-log10(P):
-171.271
MAF:
0.413
Beta (Num):
-0.261
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.074
SE (Den):
0.016
No CNV overlap
rQTL cluster:
152
Reaction Distance:
7.0
Closest Genes:
GCKR FNDC4 IFT172 AC109829.1 KRTCAP3

LLM Analysis

Numerator Metabolite Explanation:

Glycosylation, mannose metabolism.4[1], 5[2], 6[3], 7[4]

Denominator Metabolite Explanation:

Amino acid metabolism (threonine, methionine degradation).8[1], 9[2], 10[3]

Ratio Explanation:

A GCKR variant is associated with lower mannose and higher alpha-ketobutyrate.11[1] GCKR's regulation of glucokinase influences glucose and amino acid metabolism, impacting this ratio.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

GCKR variants alter glucokinase activity, impacting hepatic glucose and amino acid metabolism. This leads to changes in mannose and alpha-ketobutyrate levels, and is associated with phenotypes like type 2 diabetes, cholelithiasis, and gout, reflecting altered glucose, lipid, and urate metabolism.1[1], 11[2], 12[3], 13[4]

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