n-palmitoylglycine to 2-hydroxypalmitate

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 2-hydroxypalmitate
Metabolite Accession: GCST90199795
Name: 2-hydroxypalmitate
Hmdb Id: HMDB0031057
Super Pathway: NA
Sub Pathway: NA
Inchikey: JGHSBPIZNUXPLA

Associated Genomic Regions

Region: rs324420

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.321
Position:
46870761
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
20.876
Reference Allele:
C
-log10(P):
-221.169
MAF:
0.208
Beta (Num):
0.336
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
0.015
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):
0.253
Position:
211540507
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
18.580
Reference Allele:
C
-log10(P):
-175.754
MAF:
0.310
Beta (Num):
0.247
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.006
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:

Fatty acid amide metabolism.3[1], 6[2]

Denominator Metabolite Explanation:

Fatty acid alpha-oxidation.7[1], 8[2]

Ratio Explanation:

The ratio of n-palmitoylglycine to 2-hydroxypalmitate reflects FAAH activity; reduced FAAH function leads to the accumulation of n-palmitoylglycine, its substrate.4[1], 6[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced FAAH activity, indicated by an elevated n-palmitoylglycine/2-hydroxypalmitate ratio, is associated with cholelithiasis and chronic kidney disease, potentially through altered lipid signaling and inflammatory responses.9[1], 1[2], 10[3]

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