n-palmitoylglycine to stearate (18:0)

Numerator Metabolite

Structure of n-palmitoylglycine
Metabolite Accession: GCST90199923
Name: n-palmitoylglycine
Hmdb Id: HMDB0013034
Super Pathway: NA
Sub Pathway: NA
Inchikey: KVTFEOAKFFQCCX

Denominator Metabolite

Structure of stearate (18:0)
Metabolite Accession: GCST90200390
Name: stearate (18:0)
Hmdb Id: HMDB0000827
Super Pathway: NA
Sub Pathway: NA
Inchikey: QIQXTHQIDYTFRH

Associated Genomic Regions

Region: rs324420

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.367
Position:
46870761
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
24.763
Reference Allele:
C
-log10(P):
-310.031
MAF:
0.208
Beta (Num):
0.336
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.032
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):
0.255
Position:
211540507
SE (Ratio):
0.013
Effect Allele:
A
Z-score (Ratio):
19.374
Reference Allele:
C
-log10(P):
-190.859
MAF:
0.310
Beta (Num):
0.247
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.008
SE (Den):
0.017
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

N-acyl amino acid metabolism.7[1], 8[2]

Denominator Metabolite Explanation:

Fatty acid biosynthesis and metabolism.9[1], 10[2], 11[3]

Ratio Explanation:

Reduced FAAH activity from a missense variant decreases the breakdown of N-palmitoylglycine, elevating its ratio relative to stearate, a fatty acid not directly metabolized by FAAH.12[1], 6[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced FAAH function alters lipid metabolism, including levels of N-acyl amino acids. This dysregulation is a proposed risk factor for cholelithiasis, a disease of lipid, particularly cholesterol, imbalance.13[1], 14[2]

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