2r,3r-dihydroxybutyrate to 3-methylglutarylcarnitine (2)

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 3-methylglutarylcarnitine (2)
Metabolite Accession: GCST90199971
Name: 3-methylglutarylcarnitine (2)
Hmdb Id: HMDB0000552
Super Pathway: NA
Sub Pathway: NA
Inchikey: HFCPFJNSBPQJDP

Associated Genomic Regions

Region: rs1260326

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Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
-0.153
Position:
27730940
SE (Ratio):
0.020
Effect Allele:
T
Z-score (Ratio):
-7.708
Reference Allele:
C
-log10(P):
-31.989
MAF:
0.412
Beta (Num):
-0.074
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.079
SE (Den):
0.015
No CNV overlap
rQTL cluster:
152
Reaction Distance:
NA
Closest Genes:
GCKR FNDC4 IFT172 AC109829.1 KRTCAP3

Region: rs1047891

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Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
-0.464
Position:
211540507
SE (Ratio):
0.021
Effect Allele:
A
Z-score (Ratio):
-22.226
Reference Allele:
C
-log10(P):
-250.331
MAF:
0.310
Beta (Num):
-0.152
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.312
SE (Den):
0.015
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Threonine metabolism.6[1], 7[2]

Denominator Metabolite Explanation:

Leucine catabolism, Fatty acid metabolism.8[1], 9[2], 10[3]

Ratio Explanation:

Elevated ratio may indicate mitochondrial dysfunction where impaired CPS1 activity (urea cycle) is associated with altered amino acid and fatty acid catabolism.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

CPS1 missense variants impair the urea cycle, leading to hyperammonemia and mitochondrial stress, which drives the development of liver cirrhosis, kidney failure, and dyslipidemias.3[1], 4[2]

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