dodecanedioate (c12-dc) to sebacate (c10-dc)

Numerator Metabolite

Structure of dodecanedioate (c12-dc)
Metabolite Accession: GCST90199697
Name: dodecanedioate (c12-dc)
Hmdb Id: HMDB0000623
Super Pathway: NA
Sub Pathway: NA
Inchikey: TVIDDXQYHWJXFK

Denominator Metabolite

Structure of sebacate (c10-dc)
Metabolite Accession: GCST90199718
Name: sebacate (c10-dc)
Hmdb Id: HMDB0000792
Super Pathway: NA
Sub Pathway: NA
Inchikey: CXMXRPHRNRROMY

Associated Genomic Regions

Region: rs6690449

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.112
Position:
151859166
SE (Ratio):
0.013
Effect Allele:
C
Z-score (Ratio):
8.869
Reference Allele:
T
-log10(P):
-41.746
MAF:
0.292
Beta (Num):
0.013
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.099
SE (Den):
0.017
No CNV overlap
rQTL cluster:
155
Reaction Distance:
NA
Closest Genes:
THEM4 THEM5 C2CD4D RORC LINGO4

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid omega-oxidation2[1]

Denominator Metabolite Explanation:

Fatty acid omega-oxidation2[1], 3[2]

Ratio Explanation:

The ratio reflects peroxisomal beta-oxidation efficiency, where dodecanedioate (C12) is shortened to sebacate (C10), a process potentially influenced by THEM4's thioesterase activity.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered fatty acid metabolism due to genetic variants in THEM4 may influence intestinal inflammation. The colocalization of CTSS and CTSK, proteases involved in tissue remodeling, suggests a combined effect on gut wall integrity, potentially increasing susceptibility to diverticular disease.4[1], 5[2], 6[3], 7[4]

Phenotype Driver:

Gene-centric:THEM4/CTSS/CTSK

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