cis-3,4-methyleneheptanoylcarnitine to glycine conjugate of c10h12o2*

Numerator Metabolite

Metabolite Accession: GCST90200266
Name: cis-3,4-methyleneheptanoylcarnitine
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200182
Name: glycine conjugate of c10h12o2*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1047891

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Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
-0.142
Position:
211540507
SE (Ratio):
0.018
Effect Allele:
A
Z-score (Ratio):
-7.804
Reference Allele:
C
-log10(P):
-32.747
MAF:
0.310
Beta (Num):
-0.078
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
0.065
SE (Den):
0.019
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

Xenobiotic metabolism (glycine conjugation).11[1], 12[2], 13[3], 14[4]

Ratio Explanation:

The ratio likely reflects metabolic stress where impaired CPS1 function, and consequently urea cycle activity, impacts both fatty acid oxidation and glycine availability.11[1], 15[2], 16[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Deficient CPS1 function causes hyperammonemia and systemic metabolic stress, reflected by the altered ratio.17[1], 18[2], 19[3] This underlying condition is a primary driver for associated phenotypes like chronic kidney disease and cholelithiasis, which are known complications of severe metabolic distress.

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