cis-3,4-methyleneheptanoylcarnitine to cis-3,4-methyleneheptanoylglycine

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: GCST90200274
Name: cis-3,4-methyleneheptanoylglycine
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs324420

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
-0.220
Position:
46870761
SE (Ratio):
0.020
Effect Allele:
A
Z-score (Ratio):
-11.105
Reference Allele:
C
-log10(P):
-64.300
MAF:
0.209
Beta (Num):
-0.085
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.136
SE (Den):
0.019
No CNV overlap
rQTL cluster:
164
Reaction Distance:
NA
Closest Genes:
FAAH NSUN4 UQCRH LRRC41 DMBX1

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):
0.017
Effect Allele:
A
Z-score (Ratio):
-26.860
Reference Allele:
C
-log10(P):
-364.235
MAF:
0.310
Beta (Num):
-0.078
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.386
SE (Den):
0.016
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Numerator Pathway(s): Fatty acid metabolism, xenobiotic metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Denominator Pathway(s): Fatty acid metabolism, xenobiotic metabolism.6[1], 7[2]

Ratio Explanation:

Ratio Interpretation: The ratio reflects alternative metabolic fates of cis-3,4-methyleneheptanoic acid. Reduced FAAH activity, which hydrolyzes the glycine conjugate (denominator), could increase the ratio.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced FAAH function, due to genetic variants, alters endocannabinoid signaling, which is linked to chronic kidney disease and may influence lipid metabolism related to cholelithiasis.8[1], 9[2], 10[3], 11[4], 12[5]

Phenotype Driver:

Gene-centric:FAAH

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