5-dodecenoylcarnitine (c12:1) to tetradecanedioate (c14-dc)

Numerator Metabolite

Metabolite Accession: GCST90200151
Name: 5-dodecenoylcarnitine (c12:1)
Hmdb Id: HMDB13326
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of tetradecanedioate (c14-dc)
Metabolite Accession: GCST90199806
Name: tetradecanedioate (c14-dc)
Hmdb Id: HMDB0000872
Super Pathway: NA
Sub Pathway: NA
Inchikey: HQHCYKULIHKCEB

Associated Genomic Regions

Region: rs2211012

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):
0.195
Position:
47339113
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
10.063
Reference Allele:
G
-log10(P):
-53.180
MAF:
0.202
Beta (Num):
0.041
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.154
SE (Den):
0.019
No CNV overlap
rQTL cluster:
163
Reaction Distance:
NA
Closest Genes:
CYP4B1 CYP4A11 CYP4X1 EFCAB14 CYP4Z1

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation.17[1], 18[2], 19[3], 20[4], 21[5], 22[6]

Denominator Metabolite Explanation:

Fatty acid omega-oxidation.23[1], 24[2], 25[3], 26[4], 27[5]

Ratio Explanation:

The ratio may reflect a shift from beta-oxidation to omega-oxidation, potentially influenced by impaired transporter function affecting fatty acid availability or liver metabolism.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered SLCO1A2 function likely impacts hepatic handling of bile acids and bilirubin, leading to elevated GGT and total bilirubin.6[1], 7[2], 8[3], 12[4], 14[5], 16[6], 28[7] The altered fatty acid oxidation, reflected by the ratio, may be a secondary consequence of this liver dysfunction.

Phenotype Driver:

Gene-centric:SLCO1A2

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