5-dodecenoylcarnitine (c12:1) to palmitoylcarnitine (c16)

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 palmitoylcarnitine (c16)
Metabolite Accession: GCST90199666
Name: palmitoylcarnitine (c16)
Hmdb Id: HMDB0000222
Super Pathway: NA
Sub Pathway: NA
Inchikey: XOMRRQXKHMYMOC

Associated Genomic Regions

Region: rs603424

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:
10
Beta (Ratio):
-0.187
Position:
102075479
SE (Ratio):
0.020
Effect Allele:
A
Z-score (Ratio):
-9.597
Reference Allele:
G
-log10(P):
-48.552
MAF:
0.173
Beta (Num):
-0.134
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.053
SE (Den):
0.020
No CNV overlap
rQTL cluster:
67
Reaction Distance:
NA
Closest Genes:
PKD2L1 BLOC1S2 SCD CWF19L1 CHUK

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism/beta-oxidation.5[1], 6[2], 7[3], 8[4]

Denominator Metabolite Explanation:

Fatty acid metabolism/beta-oxidation.9[1], 10[2], 5[3], 11[4]

Ratio Explanation:

This ratio reflects SCD activity by comparing a monounsaturated (C12:1) to a saturated (C16) acylcarnitine, indicating the balance in fatty acid pools.1[1], 12[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered SCD activity, indicated by the C12:1/C16 ratio, changes the balance of monounsaturated and saturated fatty acids, a known contributor to the dyslipidemia, atherosclerosis, and cardiovascular disease seen in the associated phenotypes.1[1], 4[2], 13[3], 14[4]

Phenotype Driver:

Gene-centric:SCD

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